ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1206+5G>A

dbSNP: rs398122968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000076917 SCV000266463 pathogenic DOORS syndrome 2014-01-01 criteria provided, single submitter research We identified 26 families with DOORS syndrome; each patient had at least 3 of the 5 well-described features of DOORS syndrome, which include deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. A combination of whole-exome sequencing and Sanger sequencing identified homozygous or compound heterozygous pathogenic variants in TBC1D24 in 11 individuals from 9 families.
OMIM RCV000076917 SCV000108714 pathogenic DOORS syndrome 2014-01-01 no assertion criteria provided literature only

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