ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) (rs397509372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620818 SCV000738563 likely pathogenic Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Collagen Diagnostic Laboratory,University of Washington RCV000087446 SCV000120332 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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