Supplementary Data: S2 Table

Case 235: Spanish, 28yo, Female

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePreviousTesting: Full Testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data table S1

CaseGenotypingMethod: genomic DNA obtained from blood or saliva, Next-gen sequencing panels of 55 or 78 genes

Variant: NM_000257.3:c.2428T>C

CAID: CA389048429, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389048429

gnomAD: n/a

MultipleGeneVariants:

(1) TTN Variant:

Variant: NM_001256850.1(TTN):c.57107T>C (p.Ile19036Thr)

ClinVar: 179416, https://www.ncbi.nlm.nih.gov/clinvar/variation/179416/

gnomAD: 0.00004835, https://gnomad.broadinstitute.org/variant/2-179454422-A-G