ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.948C>T (p.Gly316=)

gnomAD frequency: 0.00566  dbSNP: rs34511999
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029616 SCV000052268 likely benign Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000245637 SCV000302013 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245637 SCV000333254 benign not specified 2015-08-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000029616 SCV000470573 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 Laboratory Services, Illumina RCV000271186 SCV000470574 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.
Invitae RCV000757104 SCV000627361 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000245637 SCV000729648 benign not specified 2017-01-24 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811203 SCV000885218 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000029616 SCV002564806 benign Osteogenesis imperfecta 2021-08-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276582 SCV002565599 benign Ehlers-Danlos syndrome 2022-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444443 SCV002683139 likely benign Cardiovascular phenotype 2018-12-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001811203 SCV004042306 benign not provided 2024-03-01 criteria provided, single submitter clinical testing COL1A2: BP4, BP7, BS1, BS2

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