Submissions for variant NM_001018005.2(TPM1):c.563+313A>G

gnomAD frequency: 0.00029  dbSNP: rs144700226

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036348	SCV000060000	benign	not specified	2015-05-20	criteria provided, single submitter	clinical testing	p.Ala206Ala in exon 6A of TPM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (96/16504) of South Asian chro mosomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs144700226).
GeneDx	RCV000036348	SCV000169034	benign	not specified	2014-03-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000776153	SCV000911156	benign	Cardiomyopathy	2018-06-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529359	SCV002585499	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TPM1: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490495	SCV002802008	benign	Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y	2021-09-20	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529359	SCV001742658	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036348	SCV001917975	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529359	SCV001932590	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529359	SCV001955668	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529359	SCV001963801	likely benign	not provided		no assertion criteria provided	clinical testing