ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3766-13_3766-5del

dbSNP: rs2143595030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002086746 SCV002605345 pathogenic Intellectual disability, autosomal dominant 56 2023-01-04 criteria provided, single submitter clinical testing

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