ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) (rs782781078)

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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 RCV000180512 SCV000232969 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000180512 SCV000281033 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000640830 SCV000762431 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000640830 SCV001462654 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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