ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)

dbSNP: rs782630348
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640825 SCV000762426 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659167 SCV000780983 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000640825 SCV001440407 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000659167 SCV001863748 benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32156473)

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