ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.563+347C>T

gnomAD frequency: 0.00003  dbSNP: rs759081217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604058 SCV000730238 likely benign not specified 2018-01-08 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000604058 SCV002041543 uncertain significance not specified 2021-11-21 criteria provided, single submitter clinical testing

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