ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)

gnomAD frequency: 0.99956  dbSNP: rs2734272
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247058 SCV000301999 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328440 SCV000404146 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 RCV000383040 SCV000404147 benign Ehlers-Danlos syndrome, arthrochalasia type 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 RCV000265335 SCV000404148 benign Infantile cortical hyperostosis 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.
GeneDx RCV000247058 SCV000516224 benign not specified 2016-03-03 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.
Invitae RCV001520820 SCV001730020 benign Osteogenesis imperfecta type I 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000383040 SCV001821836 benign Ehlers-Danlos syndrome, arthrochalasia type 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520820 SCV001821837 benign Osteogenesis imperfecta type I 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589207 SCV001821838 benign Osteogenesis imperfecta, perinatal lethal 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589205 SCV001821839 benign Osteogenesis imperfecta type III 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589206 SCV001821840 benign Osteogenesis imperfecta with normal sclerae, dominant form 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446484 SCV002734822 benign Cardiovascular phenotype 2018-12-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002500851 SCV002808469 benign Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2021-08-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000247058 SCV001739654 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000247058 SCV001807031 benign not specified no assertion criteria provided clinical testing

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