ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003080289 SCV003481488 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003080289 SCV003835061 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147820 SCV003835128 uncertain significance Intellectual disability-hypotonic facies syndrome, X-linked, 1 2021-05-28 criteria provided, single submitter clinical testing

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