ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) (rs782553301)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000271653 SCV000337634 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719307 SCV000850173 likely benign History of neurodevelopmental disorder 2018-12-02 criteria provided, single submitter clinical testing Other strong data;Other strong data supporting benign classification
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000271653 SCV001251765 uncertain significance not provided 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV001510472 SCV001717514 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-11-30 criteria provided, single submitter clinical testing

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