ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2137-3T>A

gnomAD frequency: 0.00634  dbSNP: rs116661275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114261 SCV000147820 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312001 SCV000847168 benign Inborn genetic diseases 2016-07-07 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 RCV001582578 SCV001818615 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807044 SCV002054225 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582578 SCV002931363 benign not provided 2025-01-22 criteria provided, single submitter clinical testing

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