ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2475G>A (p.Val825=)

gnomAD frequency: 0.00014  dbSNP: rs373528664
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914130 SCV001059290 likely benign Wilson disease 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531801 SCV001747088 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000914130 SCV001456175 uncertain significance Wilson disease 2020-01-24 no assertion criteria provided clinical testing

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