ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) (rs147008954)

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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 RCV000621985 SCV000738618 uncertain significance Cardiovascular phenotype 2017-10-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000195829 SCV000249930 likely benign not specified 2018-02-02 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 RCV000469763 SCV000559959 likely benign Ehlers-Danlos syndrome, classic type 2017-12-11 criteria provided, single submitter clinical testing

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