ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)

gnomAD frequency: 0.00006  dbSNP: rs745568808
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000278172 SCV000462462 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335519 SCV000462463 uncertain significance Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374777 SCV000462464 uncertain significance Otospondylomegaepiphyseal dysplasia, autosomal recessive 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000282672 SCV000462465 uncertain significance Fibrochondrogenesis 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680470 SCV000807845 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001338547 SCV001472000 likely benign not provided 2020-07-09 criteria provided, single submitter clinical testing
Invitae RCV001338547 SCV001532227 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001338547 SCV001783311 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957836 SCV004782391 likely benign COL11A2-related disorder 2019-12-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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