ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3235+6C>T

gnomAD frequency: 0.00384  dbSNP: rs148976215
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194334 SCV000246512 benign not specified 2016-03-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224190 SCV000281186 likely benign not provided 2016-05-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224190 SCV001857562 benign not provided 2019-05-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22405089)
Genome-Nilou Lab RCV001807126 SCV002054233 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224190 SCV002436127 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224190 SCV002545473 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ARID1B: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004530101 SCV004734105 benign ARID1B-related disorder 2022-03-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV000224190 SCV005226210 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224190 SCV001742589 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224190 SCV001798344 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224190 SCV001971691 likely benign not provided no assertion criteria provided clinical testing

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