ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3885G>A (p.Glu1295=)

gnomAD frequency: 0.00001  dbSNP: rs781858736
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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 RCV001440314 SCV001643220 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001440314 SCV002087290 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-04-11 no assertion criteria provided clinical testing

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