ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)

gnomAD frequency: 0.00061  dbSNP: rs117955701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756489 SCV000884319 benign Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001672949 SCV001885244 benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000756489 SCV002807253 likely benign Polycystic kidney disease, adult type 2021-09-14 criteria provided, single submitter clinical testing

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