ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=)

gnomAD frequency: 0.00009  dbSNP: rs146915755
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252181 SCV000305750 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494724 SCV002804370 likely benign Polycystic kidney disease, adult type 2021-07-23 criteria provided, single submitter clinical testing

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