Submissions for variant NM_000257.4(MYH7):c.-7C>A

dbSNP: rs876657890

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223460	SCV000272062	uncertain significance	not specified	2015-07-28	criteria provided, single submitter	clinical testing	The c.-7C>A variant in MYH7 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the u ntranslated region upstream of the initiation codon. Computational tools do not suggest an impact to splicing. However, this information is not predictive enoug h to rule out pathogenicity. In summary, the clinical significance of the c.-7C> A variant is uncertain.
Color Diagnostics, LLC DBA Color Health	RCV001525714	SCV001735896	uncertain significance	Cardiomyopathy	2022-10-18	criteria provided, single submitter	clinical testing	This variant is located in the 5' untranslated region of the MYH7 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/250532 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001525714	SCV004239497	uncertain significance	Cardiomyopathy	2022-08-23	criteria provided, single submitter	clinical testing