ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) (rs61752457)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120183 SCV000232971 likely benign not specified 2014-10-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120183 SCV000246755 benign not specified 2016-05-05 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000120183 SCV000257696 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV001081886 SCV000639866 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000524644 SCV001143148 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
ITMI RCV000120183 SCV000084327 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001081886 SCV001452625 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-16 no assertion criteria provided clinical testing

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