ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington 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 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 2018-04-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000325556 SCV000554693 likely benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771255 SCV000903364 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000771255 SCV001333507 benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-14 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 no assertion criteria provided clinical testing

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