ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)

dbSNP: rs377267217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088741 SCV001067264 likely benign Wilson disease 2024-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000921851 SCV001156163 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088741 SCV001977544 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001088741 SCV004845321 likely benign Wilson disease 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088741 SCV001466736 uncertain significance Wilson disease 2020-08-07 no assertion criteria provided clinical testing

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