ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del)

dbSNP: rs747790383
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000723182 SCV002072811 likely benign not provided 2022-01-28 criteria provided, single submitter clinical testing
Invitae RCV000723182 SCV002438858 likely benign not provided 2023-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369987 SCV002692761 likely benign Inborn genetic diseases 2017-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003892599 SCV004709228 likely benign ARID1B-related condition 2023-08-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Gharavi Laboratory, Columbia University RCV000723182 SCV000854313 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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