ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) (rs116298748)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000124503 SCV000603200 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618201 SCV000738325 benign Cardiovascular phenotype 2015-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000124503 SCV000167936 benign not specified 2012-12-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000369867 SCV000425641 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000203981 SCV000262016 benign Ehlers-Danlos syndrome, classic type 2017-07-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124503 SCV000303985 benign not specified criteria provided, single submitter clinical testing

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