Submissions for variant NM_001018005.2(TPM1):c.375-3C>T

gnomAD frequency: 0.00003  dbSNP: rs202228866

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154861	SCV000204543	likely benign	not specified	2014-08-26	criteria provided, single submitter	clinical testing	c.375-3C>T in intron 3 of TPM1: This variant is not expected to have clinical si gnificance because it does not cause the splice site sequence to diverge from co nsensus. It has been identified in 2/8600 of European American chromosomes by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs202 228866).
Blueprint Genetics	RCV000154861	SCV000264263	likely benign	not specified	2015-11-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000154861	SCV000514947	benign	not specified	2015-03-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534193	SCV000623802	benign	Hypertrophic cardiomyopathy	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622027	SCV000740169	benign	Cardiovascular phenotype	2017-05-30	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Color Diagnostics, LLC DBA Color Health	RCV000771257	SCV000903368	benign	Cardiomyopathy	2018-06-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121600	SCV001280233	uncertain significance	Dilated cardiomyopathy 1Y	2019-02-01	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001121601	SCV001280234	uncertain significance	Hypertrophic cardiomyopathy 3	2019-02-01	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771257	SCV001333153	benign	Cardiomyopathy	2017-11-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154861	SCV004038012	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154861	SCV001920309	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000154861	SCV001926800	benign	not specified		no assertion criteria provided	clinical testing