ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.687C>T (p.Ser229=)

gnomAD frequency: 0.00004  dbSNP: rs759362606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539591 SCV000623811 likely benign Hypertrophic cardiomyopathy 2024-10-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805146 SCV002053620 likely benign Cardiomyopathy 2021-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367763 SCV002666123 likely benign Cardiovascular phenotype 2020-10-13 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.
All of Us Research Program, National Institutes of Health RCV000539591 SCV004815460 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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