ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)

dbSNP: rs2092047055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005988 SCV005640761 likely pathogenic Polycystic kidney disease, adult type 2024-05-14 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844983 SCV001876915 likely pathogenic Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research

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