ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3700del

dbSNP: rs1957054299
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ClinVar version:
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 RCV001171672 SCV001334486 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462641 SCV004216406 pathogenic Wilson disease 2023-06-06 criteria provided, single submitter clinical testing

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