ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)

gnomAD frequency: 0.00002  dbSNP: rs3761507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451394 SCV001655021 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001451394 SCV001781481 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559292 SCV001781482 uncertain significance Intellectual disability-hypotonic facies syndrome, X-linked, 1 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001451394 SCV002087302 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-04-13 no assertion criteria provided clinical testing

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