ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4810-3T>C (rs370596323)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718426 SCV000849289 likely benign History of neurodevelopmental disorder 2017-04-04 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730810 SCV000858574 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV001080925 SCV001009899 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-08-20 criteria provided, single submitter clinical testing

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