ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)

gnomAD frequency: 0.00001  dbSNP: rs782374254
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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 RCV001274214 SCV001721707 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274214 SCV001458087 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-24 no assertion criteria provided clinical testing

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