ClinVar Miner

Submissions for variant NM_015125.5(CIC):c.3617del (p.Gln1206fs)

dbSNP: rs2147320674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221910 SCV002499185 likely pathogenic Intellectual disability, autosomal dominant 45 2022-01-18 criteria provided, single submitter clinical testing PVS1, PM2

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