ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1791+19G>C

gnomAD frequency: 0.00249  dbSNP: rs374013482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514752 SCV000609647 likely benign not provided 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000514752 SCV001888746 benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807288 SCV002054219 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514752 SCV002397669 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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