ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2448-4G>T

dbSNP: rs1593697433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996140 SCV001150655 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779100 SCV002015050 uncertain significance not specified 2021-10-25 criteria provided, single submitter clinical testing
Invitae RCV002550688 SCV003210862 likely benign Wilson disease 2022-06-01 criteria provided, single submitter clinical testing

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