ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg)

dbSNP: rs2124149077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843888 SCV002103092 uncertain significance Intellectual disability, autosomal dominant 14 2021-01-13 criteria provided, single submitter clinical testing PM2, PP2, BP1

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