ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4383-7A>G

gnomAD frequency: 0.14423  dbSNP: rs112318565
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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 RCV000114273 SCV000147832 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV001650944 SCV001871719 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807048 SCV002054241 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001650944 SCV002490076 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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