ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3931G>A (p.Ala1311Thr)

dbSNP: rs146169133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561710 SCV001784359 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15775720, 30333007, 28578020, 26920127)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361666 SCV005919508 benign Polycystic kidney disease, adult type 2023-02-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910883 SCV004724263 likely benign PKD1-related disorder 2022-03-31 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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