ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2592G>T (p.Gly864=)

dbSNP: rs782526944
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326045 SCV001517057 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2022-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001326045 SCV002087334 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-07-16 no assertion criteria provided clinical testing

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