ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln)

gnomAD frequency: 0.00156  dbSNP: rs137905643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436404 SCV000534959 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31740684)
Breakthrough Genomics, Breakthrough Genomics RCV000436404 SCV005218994 likely benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005365295 SCV005919548 likely benign Polycystic kidney disease, adult type 2020-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932687 SCV004748777 likely benign PKD1-related disorder 2019-06-14 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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