ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)

dbSNP: rs1596558405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788731 SCV000927952 pathogenic not provided 2018-09-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021186 SCV005641144 pathogenic Polycystic kidney disease, adult type 2024-01-29 criteria provided, single submitter clinical testing

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