ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)

gnomAD frequency: 0.00044  dbSNP: rs140250347
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179660 SCV000231943 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271060 SCV000346327 uncertain significance Stickler syndrome 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, 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 RCV000357636 SCV000346329 uncertain significance Fibrochondrogenesis 1 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 RCV000680455 SCV000807828 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179660 SCV001068940 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000179660 SCV001143580 benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262338 SCV001440162 likely benign Marshall syndrome 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000179660 SCV001780620 likely benign not provided 2022-04-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000179660 SCV001979877 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000179660 SCV001980101 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004539684 SCV004762741 likely benign COL11A1-related disorder 2023-07-06 no assertion criteria provided 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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