ClinVar Miner

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

dbSNP: 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 RCV002317589 SCV000851140 likely benign Inborn genetic diseases 2019-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253636 SCV001429465 uncertain significance Developmental and epileptic encephalopathy, 1 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV001504893 SCV001709779 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-08 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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