ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.711T>C (p.Asn237=)

dbSNP: rs782710787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862818 SCV001003372 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001692300 SCV001914901 benign not provided 2020-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372402 SCV002668331 benign Inborn genetic diseases 2017-06-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
Natera, Inc. RCV000862818 SCV002089016 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-24 no assertion criteria provided clinical testing

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