Case#: Proband C.1. Age, sex and ancestry NR.

DiseaseAssertion: Familial dilated cardiomyopathy.

FamilyInfo: Three people in the family had DCM and carried the variant. See Table 2.

ParentalTesting: NR

CasePresentingHPOs: HP:0001644 (Dilated cardiomyopathy)

CaseHPOFreeText: NR

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

CasePreviousTesting: NR

Genotyping Method: The authors used Sanger sequencing in both directions on DNA from blood.

FunctionalAnalysis: NR

Variant: NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)

ClinVar: 31892

CAID: CA018057

gnomAD: No record found in gnomAD v4.1.

AdditionalInfo: PMID 20215591. The case is in Table 2 and the TPM1 section of the Results. The authors thought the variant likely caused DCM in this family.

Family Label: Family of patient 13940

Family#previoustesting: Restriction enzyme digest to detect presence of proband mutation in family members.

Family#method1: SSCP analysis of affected exon (12)

Affected: 6

Unaffected: 6

Segregations: 5

Proband label: 13940

Variant: NC_000022.11:g.29673267A>T

CAID: CA288260

FamilyPMIDs: Short MP, Bove C, MacCollin M, Mohney T, Rames hV, Terenzio A ,Gusella J (1994). Gender differences in neurofibromatosis, type2. Neurology 44 Suppl 2 : A159.

gnomAD: not found

two variants confirmed by Sanger sequencing in the MYH7 gene among HCM family