ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)

dbSNP: rs1555283564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668279 SCV000792853 pathogenic Wilson disease 2017-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668279 SCV001977218 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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