ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) (rs886038816)

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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 RCV000248612 SCV000318120 uncertain significance Cardiovascular phenotype 2012-12-21 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
Blueprint Genetics RCV000788728 SCV000927947 likely pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing

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