ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)

dbSNP: rs2124789497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211082 SCV002496481 pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing ARID1A: PVS1, PM2
Molecular Genetics Lab, CHRU Brest RCV003883188 SCV004697726 pathogenic Intellectual disability, autosomal dominant 14 criteria provided, single submitter clinical testing

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