ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) (rs148006741)

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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 RCV000242467 SCV000320383 likely benign Cardiovascular phenotype 2015-10-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000124465 SCV000167898 benign not specified 2014-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000474631 SCV000559982 likely benign Ehlers-Danlos syndrome, classic type 2017-11-29 criteria provided, single submitter clinical testing

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