In patient 1 with HCM , we identified two known pathogenic missense variants in the two most frequently mutated sarcomeric genes MYH7 and MYBPC .
Case1: patient 1, 68 years old, male
DiseaseAssertion: HCM
FamilyInfo: positive family history of SCD and end stage heart failure
CasePresentingHPOs: n/a
CaseHPOFreeText: n/a
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
GenotypingMethod: multiplex targeted high‐throughput sequencing, DNA capture assay including all exons from 130 genes involved in cardiovascular Mendelian disorders and analysed simultaneously four samples by multiplexing
VariantMYH7: NM_000257.4:c.4130C>A
ClinVar: not found
CAID: CA389040836
gnomAD: not found
VariantMYBPC3:
ClinVar: 42813
CAID: CA016212
gnomAD: https://gnomad.broadinstitute.org/variant/11-47367871-C-T
0.01364 European (Finnish)