ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=)

gnomAD frequency: 0.00212  dbSNP: rs139283268
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218437 SCV000270084 benign not specified 2016-12-13 criteria provided, single submitter clinical testing p.Pro1347Pro in exon 56 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence It has been identified in 0.8% (64/8454) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs139283268).
Eurofins Ntd Llc (ga) RCV000218437 SCV000341013 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339462 SCV000462297 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377686 SCV000462298 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000290278 SCV000462299 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000347444 SCV000462300 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001514580 SCV000715918 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514580 SCV001722457 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000218437 SCV005394061 likely benign not specified 2024-09-04 criteria provided, single submitter clinical testing

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