ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4957-4A>G

dbSNP: rs1602979818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995969 SCV001150383 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253370 SCV001429049 likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2018-10-02 criteria provided, single submitter clinical testing This variant was identified as hemizygous
GeneDx RCV000995969 SCV002006696 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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