ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1509A>G (p.Gln503=)

dbSNP: rs1039587651
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 RCV000690940 SCV000818671 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-02-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000690940 SCV001458092 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-04-11 no assertion criteria provided clinical testing

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