ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)

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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 RCV003060977 SCV003456636 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV003317644 SCV004021382 uncertain significance not provided 2023-01-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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