ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)

dbSNP: rs2092941758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289049 SCV001476603 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486089 SCV002791144 uncertain significance Polycystic kidney disease, adult type 2021-10-06 criteria provided, single submitter clinical testing

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