ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002392047 SCV002698725 likely benign Inborn genetic diseases 2019-12-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095150 SCV003507283 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-08-07 criteria provided, single submitter clinical testing

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