ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del)

dbSNP: rs2146042583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001594445 SCV001499945 likely pathogenic Intellectual disability, autosomal dominant 15 2020-12-20 criteria provided, single submitter clinical testing

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