ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)

gnomAD frequency: 0.00007  dbSNP: rs149232501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116466 SCV000150396 uncertain significance not provided 2014-02-04 criteria provided, single submitter clinical testing
Invitae RCV001088031 SCV000762455 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088031 SCV002087320 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-02-26 no assertion criteria provided clinical testing

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