ClinVar Miner

Submissions for variant t(12;19)(q24.21;q12)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agency for Science, Technology and Research,Genome Institute of Singapore RCV000203285 SCV000172205 pathogenic Hypertelorism; Robin sequence; Scoliosis; Hirsutism; Bulbous nose; Flat occiput; Wide nasal bridge; Strabismus; Intellectual disability, mild; Metatarsus adductus; Equinovarus deformity; Camptodactyly; Developmental delay; Smooth philtrum criteria provided, single submitter research Patients carrying mutations, copy number loss or gain, or balanced rearrangements within this gene displayed overlapping clinical phenotypes.

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