ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1332A>G (p.Arg444=)

gnomAD frequency: 0.00001  dbSNP: rs782807071
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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 RCV001455880 SCV001659648 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782740 SCV005395725 likely benign not specified 2024-09-04 criteria provided, single submitter clinical testing

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