ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)

dbSNP: rs41303631
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120065 SCV000593367 benign not specified 2016-02-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514601 SCV000609813 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000514601 SCV001111655 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000514601 SCV001793750 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 28767289)
Genome-Nilou Lab RCV002259635 SCV002539489 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514601 SCV004123615 benign not provided 2023-12-01 criteria provided, single submitter clinical testing ARID1A: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003925169 SCV004743623 likely benign ARID1A-related condition 2019-05-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120065 SCV000084202 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000514601 SCV001741040 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000120065 SCV001969350 benign not specified no assertion criteria provided clinical testing

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