ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)

gnomAD frequency: 0.00005  dbSNP: rs748123570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757642 SCV000885942 likely benign not provided 2017-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477743 SCV002798490 likely benign Polycystic kidney disease, adult type 2021-09-28 criteria provided, single submitter clinical testing

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