ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val)

dbSNP: rs2066171841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253572 SCV001429361 uncertain significance Intellectual disability-hypotonic facies syndrome, X-linked, 1 2019-12-02 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221618 SCV002499162 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing PM2, PP2, PP3

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