ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.24G>C (p.Arg8=)

dbSNP: rs375279759
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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) RCV000283964 SCV000334683 uncertain significance not provided 2015-09-24 criteria provided, single submitter clinical testing
Invitae RCV000283964 SCV002345836 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897608 SCV004711896 likely benign PCNT-related condition 2023-04-26 criteria provided, single submitter 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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