ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)

gnomAD frequency: 0.00002  dbSNP: rs1280555560
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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 RCV000701090 SCV000829873 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965694 SCV005536082 likely benign Inborn genetic diseases 2024-11-07 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.
Natera, Inc. RCV000701090 SCV002087283 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-02-03 no assertion criteria provided clinical testing

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