ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)

gnomAD frequency: 0.00025  dbSNP: rs376075101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663781 SCV001879426 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495991 SCV002798491 likely benign Polycystic kidney disease, adult type 2021-10-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002495991 SCV006052515 likely benign Polycystic kidney disease, adult type 2024-07-30 criteria provided, single submitter clinical testing

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