ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.954C>T (p.Gly318=)

dbSNP: rs745740327
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503311 SCV000593374 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311812 SCV000847227 likely benign Inborn genetic diseases 2016-08-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV001707710 SCV001935489 benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807263 SCV002054213 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001707710 SCV002401235 benign not provided 2023-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001707710 SCV004185403 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ARID1B: BP4, BP7, BS1

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