ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) (rs757588621)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720263 SCV000851140 likely benign History of neurodevelopmental disorder 2019-01-25 criteria provided, single submitter clinical testing Does not segregate in family study ;Does not segregate with disease in family study (genes with incomplete penetrance);Other data supporting benign classification
Institute of Human Genetics, University of Leipzig Medical Center RCV001253636 SCV001429465 uncertain significance Epileptic encephalopathy, early infantile, 1 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV001504893 SCV001709779 likely benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2020-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000722715 SCV001945450 likely benign not provided 2019-04-24 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000722715 SCV000853846 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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