ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.322+10T>C

gnomAD frequency: 0.00009  dbSNP: rs200171775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939788 SCV001085639 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960538 SCV004773421 likely benign TMPRSS3-related disorder 2021-02-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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