ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.405C>T (p.Val135=)

gnomAD frequency: 0.00006  dbSNP: rs371917839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177252 SCV000229095 uncertain significance not provided 2015-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177252 SCV001047122 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739562 SCV005364437 likely benign PCNT-related disorder 2024-04-10 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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