ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.594+5A>T (rs200744314)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000299692 SCV000332943 benign not specified 2015-07-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344198 SCV000470561 benign Osteogenesis imperfecta 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.
Illumina Clinical Services Laboratory,Illumina RCV000403517 SCV000470562 benign EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000299692 SCV000603115 benign not specified 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV001086919 SCV000627352 benign Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000299692 SCV000729664 benign not specified 2017-05-18 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000542025 SCV001155143 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709887 SCV000840228 not provided Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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