ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)

dbSNP: rs1449091873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041373 SCV001204984 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001776100 SCV002012633 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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