ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=)

gnomAD frequency: 0.00226  dbSNP: rs147850232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248495 SCV000305732 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757631 SCV000885930 benign Polycystic kidney disease, adult type 2019-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001582814 SCV001813777 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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