ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) (rs122445108)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory,Strasbourg University Hospital RCV000224314 SCV000281747 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680146 SCV000807591 pathogenic Mental retardation-hypotonic facies syndrome X-linked, 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in an 8-year-old male with intellectual disability, hypotonia, dysmorphic features, GERD, febrile seizure, short stature, mirocephaly.
Raymond Lab,University of Cambridge RCV000224314 SCV000897756 likely pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000148028 SCV000965785 pathogenic ATR-X syndrome 2014-01-01 criteria provided, single submitter clinical testing
OMIM RCV000012508 SCV000032742 pathogenic Mental retardation-hypotonic facies syndrome, X-linked 2005-02-01 no assertion criteria provided literature only
GeneReviews RCV000148028 SCV000195529 pathogenic ATR-X syndrome 2014-11-06 no assertion criteria provided literature only

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