ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) (rs28942075)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000004059 SCV000192324 pathogenic Wilson disease 2018-03-15 criteria provided, single submitter clinical testing
Counsyl RCV000004059 SCV000486748 pathogenic Wilson disease 2016-08-01 criteria provided, single submitter clinical testing
OMIM RCV000004059 SCV000024225 pathogenic Wilson disease 1995-12-01 no assertion criteria provided literature only

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