ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)

dbSNP: rs1183423966
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250186 SCV001424372 pathogenic Wilson disease criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001250186 SCV001977392 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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