ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6141C>T (p.Asp2047=)

gnomAD frequency: 0.00005  dbSNP: rs144445891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193798 SCV000248482 uncertain significance not specified 2014-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003114348 SCV003786756 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003114348 SCV004152032 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing PCNT: BP4, BP7

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