ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)

gnomAD frequency: 0.00001  dbSNP: rs755202606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665012 SCV000789065 uncertain significance Wilson disease 2017-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310694 SCV001500599 likely pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665012 SCV001977538 uncertain significance Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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