ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del)

dbSNP: rs770512547
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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 RCV000192909 SCV000246499 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314775 SCV000849392 benign Inborn genetic diseases 2016-12-13 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 RCV001640284 SCV001856373 benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001640284 SCV002970561 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539763 SCV004798587 benign ARID1B-related disorder 2020-04-20 no assertion criteria provided 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).

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