ClinVar Miner

Submissions for variant NM_033120.4(NKD2):c.590G>A (p.Arg197His)

gnomAD frequency: 0.00376  dbSNP: rs137977762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000958938 SCV001105823 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000958938 SCV004153831 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NKD2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000958938 SCV005304895 benign not provided criteria provided, single submitter not provided

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