ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)

dbSNP: rs587780288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116467 SCV000150398 uncertain significance not provided 2013-11-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000116467 SCV000226230 uncertain significance not provided 2014-08-27 criteria provided, single submitter clinical testing
Invitae RCV001079818 SCV000762460 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079818 SCV001462652 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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