ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.573C>T (p.Ala191=)

gnomAD frequency: 0.00001  dbSNP: rs780507307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772604 SCV000905784 likely benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845334 SCV000987380 likely benign not provided criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061071 SCV002467299 likely benign Hypertrophic cardiomyopathy 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343623 SCV002649684 likely benign Cardiovascular phenotype 2019-07-17 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.

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