ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3557-8C>T

gnomAD frequency: 0.00001  dbSNP: rs765668065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000943066 SCV001371334 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV001272284 SCV001620212 likely benign Wilson disease 2022-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001272284 SCV001977550 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272284 SCV001454151 uncertain significance Wilson disease 2020-02-13 no assertion criteria provided clinical testing

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