ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.460G>C (p.Asp154His)

dbSNP: rs1477700804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237456 SCV002009226 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154192 SCV003843608 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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