ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His)

gnomAD frequency: 0.00001  dbSNP: rs1452116333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507094 SCV000604747 uncertain significance not specified 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712674 SCV000843193 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010455 SCV005638618 uncertain significance Polycystic kidney disease, adult type 2024-01-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005010455 SCV005912194 uncertain significance Polycystic kidney disease, adult type 2018-12-10 criteria provided, single submitter clinical testing

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