ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup)

dbSNP: rs764418312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316913 SCV000850743 likely benign Inborn genetic diseases 2016-06-29 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.
GeneDx RCV000722971 SCV001779214 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27789416)
Invitae RCV000722971 SCV003033554 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722971 SCV000854102 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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