ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.904-39A>G (rs1569518138)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785892 SCV000924468 likely pathogenic Ullrich congenital muscular dystrophy 1 2018-06-15 criteria provided, single submitter research The heterozygous c.904-39A>G extended splice site variant was identified by our study in one individual with Ullrich congenital muscular dystrophy. Trio exome analysis showed this variant to be de novo. This variant has been reported in literature, and it has been shown to lead to a skipping of exon 11 (Briñas et al. 2010). This variant was absent from large population studies. In summary, this variant is pathogenic.

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