Submissions for variant NM_001018005.2(TPM1):c.115-262C>T

gnomAD frequency: 0.00079  dbSNP: rs74573041

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036636	SCV000060291	benign	not specified	2017-12-08	criteria provided, single submitter	clinical testing	p.Asp58Asp in exon 1A of TPM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (37/15892) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs74573041) BA1, BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV001182250	SCV001347638	benign	Cardiomyopathy	2018-10-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001711105	SCV001940223	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711105	SCV004010375	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TPM1: BP4, BS1
Clinical Genetics, Academic Medical Center	RCV000036636	SCV001978941	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001711105	SCV001979406	likely benign	not provided		no assertion criteria provided	clinical testing