ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1241G>A (p.Gly414Asp) (rs794728044)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252353 SCV000319260 uncertain significance Cardiovascular phenotype 2014-04-15 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Other data supporting pathogenic classification

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