ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3714+11G>A

gnomAD frequency: 0.00159  dbSNP: rs368322992
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Total submissions: 6
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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 RCV000514845 SCV000610553 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000514845 SCV001862686 benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807290 SCV002054237 benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514845 SCV002371859 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514845 SCV002497486 benign not provided 2022-06-01 criteria provided, single submitter clinical testing ARID1B: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000514845 SCV005226215 likely benign not provided criteria provided, single submitter not provided

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