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: 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 RCV000507094 SCV000604747 uncertain significance not specified 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712674 SCV000843193 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing

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