ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2595C>T (p.His865=)

dbSNP: rs61752455
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098466 SCV002399178 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801155 SCV005423381 likely benign not specified 2024-10-04 criteria provided, single submitter clinical testing

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