ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3312C>T (p.Gly1104=) (rs752919642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767940 SCV000898625 uncertain significance Ehlers-Danlos syndrome, type 4 2018-02-08 criteria provided, single submitter clinical testing COL3A1 NM_000090.3 exon 45 p.Gly1104Gly (c.3312C>T): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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