ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)

gnomAD frequency: 0.00002  dbSNP: rs200466480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779435 SCV002014801 likely benign not specified 2021-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489827 SCV002795757 likely benign Polycystic kidney disease 4 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892842 SCV004710030 likely benign PKHD1-related disorder 2021-06-09 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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