ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.9090C>T (p.Thr3030=)

gnomAD frequency: 0.00001  dbSNP: rs942925965
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820271 SCV002064643 uncertain significance not specified 2019-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074324 SCV002402064 likely benign not provided 2023-08-02 criteria provided, single submitter clinical testing

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