ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) (rs111391222)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148459 SCV000190158 uncertain significance Aortic aneurysm 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
GeneDx RCV000181067 SCV000233343 benign not specified 2018-02-22 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.
Ambry Genetics RCV000251215 SCV000317906 benign Cardiovascular phenotype 2015-06-20 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
Illumina Clinical Services Laboratory,Illumina RCV000325556 SCV000425500 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000325556 SCV000493726 uncertain significance Ehlers-Danlos syndrome, type 4 2015-09-01 criteria provided, single submitter clinical testing
Invitae RCV000857883 SCV000554693 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Color RCV000771255 SCV000903364 benign Thoracic aortic aneurysm and aortic dissection 2018-04-07 criteria provided, single submitter clinical testing

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