ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) (rs2271683)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124414 SCV000167847 benign not specified 2014-05-15 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000124414 SCV000268915 benign not specified 2015-06-05 criteria provided, single submitter clinical testing p.Ile1205Val in exon 48 of COL3A1: This variant is not expected to have clinical significance because it has been identified in 5.6% (482/8650) of East Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs2271683).
PreventionGenetics,PreventionGenetics RCV000124414 SCV000302045 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323932 SCV000425540 benign Ehlers-Danlos syndrome, type 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000323932 SCV000554695 benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589387 SCV000695373 benign not provided 2016-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620515 SCV000738370 benign Cardiovascular phenotype 2015-06-30 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000124414 SCV000885229 benign not specified 2019-03-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770602 SCV000902051 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-29 criteria provided, single submitter clinical testing
Color RCV000770602 SCV000902732 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-15 criteria provided, single submitter clinical testing

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