ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.2699+1G>A

dbSNP: rs2131922149
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002227923 SCV002507110 pathogenic Intellectual disability, autosomal recessive 13 criteria provided, single submitter clinical testing

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