ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn)

dbSNP: rs2138663905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211254 SCV002497671 pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing ATP7B: PS1, PM1, PM2, PP3, PP4
Mayo Clinic Laboratories, Mayo Clinic RCV002211254 SCV004226646 likely pathogenic not provided 2022-08-24 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3

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