Submissions for variant NM_001018005.2(TPM1):c.684T>C (p.Leu228=)

gnomAD frequency: 0.00001  dbSNP: rs397516384

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036353	SCV000060005	likely benign	not specified	2011-06-16	criteria provided, single submitter	clinical testing	Leu228Leu in exon 7 of TPM1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.
Invitae	RCV000870906	SCV001012477	likely benign	Hypertrophic cardiomyopathy	2022-06-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001179080	SCV001343670	likely benign	Cardiomyopathy	2018-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003343607	SCV004074893	likely benign	Cardiovascular phenotype	2023-07-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.