ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)

gnomAD frequency: 0.00003  dbSNP: rs966307189
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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 RCV000757640 SCV000885940 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493382 SCV002788719 uncertain significance Polycystic kidney disease, adult type 2022-03-19 criteria provided, single submitter clinical testing

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