ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) (rs398124510)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082604 SCV000114646 benign not specified 2013-11-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082604 SCV000192097 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082604 SCV000315890 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000463305 SCV000561867 likely benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720751 SCV000851632 likely benign History of neurodevelopmental disorder 2019-03-02 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other data supporting benign classification;Other strong data
OMIM RCV000011954 SCV000032188 uncertain significance Mental retardation, with or without seizures, ARX-related, X-linked 2011-01-01 no assertion criteria provided literature only

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