Submissions for variant NM_001018005.2(TPM1):c.774C>T (p.Asp258=)

gnomAD frequency: 0.00001  dbSNP: rs762282433

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770518	SCV000901964	uncertain significance	Cardiomyopathy	2016-01-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770518	SCV001344010	likely benign	Cardiomyopathy	2019-10-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001426915	SCV001629576	likely benign	Hypertrophic cardiomyopathy	2024-11-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001426915	SCV004815464	likely benign	Hypertrophic cardiomyopathy	2023-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004678821	SCV005178976	likely benign	Cardiovascular phenotype	2024-04-12	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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724150	SCV001957249	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724150	SCV001975109	likely benign	not provided		no assertion criteria provided	clinical testing