ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1202-9G>A

dbSNP: rs1596588606
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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 RCV000788955 SCV000928257 likely pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501034 SCV002809892 pathogenic Polycystic kidney disease, adult type 2021-09-25 criteria provided, single submitter clinical testing

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