ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)

dbSNP: rs151325202
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726362 SCV000344089 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000726362 SCV000520244 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726362 SCV001047951 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147231 SCV000194600 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935251 SCV004755611 likely benign PCNT-related disorder 2021-07-01 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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