ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) (rs45439799)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078966 SCV000110831 benign not specified 2013-11-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000078966 SCV000150400 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428077 SCV000510722 benign not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV000012490 SCV000639896 benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715054 SCV000845878 benign History of neurodevelopmental disorder 2016-01-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000012490 SCV000883115 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2018-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000428077 SCV001143149 benign not provided 2018-12-19 criteria provided, single submitter clinical testing
OMIM RCV000012490 SCV000032724 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 1995-03-24 no assertion criteria provided literature only
ITMI RCV000078966 SCV000084318 not provided not specified 2013-09-19 no assertion provided reference population
Tampere Brain Tumor Research Consortium,University of Tampere RCV000588578 SCV000693709 pathogenic Atypical teratoid/rhabdoid tumor no assertion criteria provided research
Tampere Brain Tumor Research Consortium,University of Tampere RCV000590248 SCV000693710 pathogenic Astrocytoma, anaplastic no assertion criteria provided research

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