ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5551T>C (p.Leu1851=)

dbSNP: rs2067368640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002052364 SCV002319108 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002551237 SCV003309008 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-02-24 criteria provided, single submitter clinical testing

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