ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV004017211 SCV004847170 likely pathogenic Polycystic kidney disease, adult type 2021-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV004017211 SCV005641292 uncertain significance Polycystic kidney disease, adult type 2024-05-13 criteria provided, single submitter clinical testing

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