ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)

gnomAD frequency: 0.00003  dbSNP: rs749315126
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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 RCV000502400 SCV000593399 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001553321 SCV001774174 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807268 SCV002054305 likely benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001553321 SCV004644771 benign not provided 2023-08-04 criteria provided, single submitter clinical testing

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