ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.564-12C>T

gnomAD frequency: 0.00003  dbSNP: rs113591254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611120 SCV000730239 likely benign not specified 2018-02-09 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.
Color Diagnostics, LLC DBA Color Health RCV001181871 SCV001347116 likely benign Cardiomyopathy 2023-05-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811115 SCV001473934 likely benign not provided 2020-01-31 criteria provided, single submitter clinical testing
Invitae RCV002066759 SCV002331967 likely benign Hypertrophic cardiomyopathy 2023-07-07 criteria provided, single submitter clinical testing

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