ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1585CCG[6] (p.Pro533_Ser534insPro)

dbSNP: rs572236007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114257 SCV000147816 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311999 SCV000846320 benign Inborn genetic diseases 2017-03-21 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 RCV001596959 SCV001831146 benign not provided 2019-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001596959 SCV002419173 benign not provided 2025-02-04 criteria provided, single submitter clinical testing

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