ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3423C>T (p.Leu1141=)

gnomAD frequency: 0.00011  dbSNP: rs113763153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604975 SCV000721871 likely benign not specified 2017-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002529663 SCV003267843 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917925 SCV004733378 likely benign PCNT-related condition 2022-02-17 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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