ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1938A>G (p.Leu646=)

dbSNP: rs2148611303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468158 SCV001672197 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2022-06-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001468158 SCV002087346 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2021-06-16 no assertion criteria provided clinical testing

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