ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)

gnomAD frequency: 0.00475  dbSNP: rs375160616
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192809 SCV000246542 benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000432751 SCV000511246 benign not provided 2017-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314783 SCV000847406 benign Inborn genetic diseases 2016-05-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000432751 SCV001881548 benign not provided 2018-11-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26845707)
Genome-Nilou Lab RCV001807134 SCV002054215 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000432751 SCV002322924 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000432751 SCV002497482 benign not provided 2024-07-01 criteria provided, single submitter clinical testing ARID1B: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000432751 SCV001799057 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000432751 SCV001967867 likely benign not provided no assertion criteria provided clinical testing

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