ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11713-3C>T

gnomAD frequency: 0.00007  dbSNP: rs754015180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002116 SCV001159964 likely benign Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001002116 SCV002805703 likely benign Polycystic kidney disease, adult type 2021-11-11 criteria provided, single submitter clinical testing

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