ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1169G>A (p.Arg390His)

gnomAD frequency: 0.00005  dbSNP: rs367986587
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719880 SCV000516835 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001271468 SCV002484626 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-04-25 criteria provided, single submitter clinical testing
ITMI RCV000120184 SCV000084330 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001271468 SCV001452629 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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