ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) (rs61752456)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202782 SCV000257697 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000202782 SCV000202214 likely benign not specified 2015-10-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000202782 SCV000593550 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV000640853 SCV000762454 benign ATR-X syndrome 2017-09-22 criteria provided, single submitter clinical testing

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