ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) (rs587779626)

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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 RCV000618759 SCV000738536 pathogenic Cardiovascular phenotype 2016-10-11 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Deficient protein function in appropriate functional assay(s);Structural Evidence;Well-characterized mutation at same position;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Collagen Diagnostic Laboratory,University of Washington RCV000087589 SCV000120479 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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