ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu)

gnomAD frequency: 0.01518  dbSNP: rs34870395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312006 SCV000846489 benign Inborn genetic diseases 2016-03-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870851 SCV001012401 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000870851 SCV001855567 benign not provided 2018-10-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807049 SCV002054244 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114276 SCV000147835 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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