ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)

gnomAD frequency: 0.00013  dbSNP: rs200343648
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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 RCV002316338 SCV000851930 likely benign Inborn genetic diseases 2016-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Invitae RCV000862689 SCV001003229 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001598626 SCV001827582 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
ITMI RCV000120185 SCV000084331 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000862689 SCV002087331 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-25 no assertion criteria provided clinical testing

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