ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4611G>A (p.Pro1537=)

gnomAD frequency: 0.00001  dbSNP: rs749608995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822282 SCV002066357 uncertain significance not specified 2017-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738101 SCV004553498 benign not provided 2023-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003738101 SCV004702005 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ARID1B: BP4, BP7

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