ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)

gnomAD frequency: 0.00005  dbSNP: rs531854741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992618 SCV001145026 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488092 SCV002793550 uncertain significance Polycystic kidney disease, adult type 2021-11-04 criteria provided, single submitter clinical testing

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