ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.7083C>T (p.Asn2361=)

gnomAD frequency: 0.00002  dbSNP: rs3027525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640845 SCV000762446 benign Alpha thalassemia-X-linked intellectual disability syndrome 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317396 SCV000850557 likely benign Inborn genetic diseases 2017-03-24 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.
GeneDx RCV001534447 SCV001751378 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing

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