Submissions for variant NM_001018005.2(TPM1):c.828C>T (p.His276=)

gnomAD frequency: 0.00002  dbSNP: rs368813394

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000621343	SCV000737377	likely benign	Cardiovascular phenotype	2016-11-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000939523	SCV001085369	likely benign	Hypertrophic cardiomyopathy	2024-11-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001190253	SCV001357704	likely benign	Cardiomyopathy	2020-03-09	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001190253	SCV002042873	likely benign	Cardiomyopathy	2022-12-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000939523	SCV004815467	likely benign	Hypertrophic cardiomyopathy	2024-01-03	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV005404755	SCV006067043	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing