ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) (rs587779650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246003 SCV000319353 likely pathogenic Cardiovascular phenotype 2017-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Collagen Diagnostic Laboratory,University of Washington RCV000087626 SCV000120517 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000087626 SCV000894247 pathogenic Ehlers-Danlos syndrome, type 4 2018-10-31 criteria provided, single submitter clinical testing

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