ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) (rs1567186165)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763372 SCV000894068 pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000681758 SCV000809216 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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