ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) (rs376910645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665883 SCV000790078 likely pathogenic Wilson disease 2017-03-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508709 SCV001715044 pathogenic not provided 2019-10-08 criteria provided, single submitter clinical testing PS3, PS4_moderate, PM2, PP1, PP3

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