ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)

gnomAD frequency: 0.00027  dbSNP: rs144272459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001612873 SCV001838753 benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001612873 SCV002389839 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260232 SCV002539456 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001612873 SCV004123586 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing ARID1A: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001612873 SCV005284419 benign not provided criteria provided, single submitter not provided

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