ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12008C>T (p.Ala4003Val)

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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 RCV005013963 SCV005641201 uncertain significance Polycystic kidney disease, adult type 2024-04-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005013963 SCV006058205 uncertain significance Polycystic kidney disease, adult type 2023-10-03 criteria provided, single submitter clinical testing

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