ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)

gnomAD frequency: 0.81716  dbSNP: rs1676486
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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 RCV000252849 SCV000308478 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332848 SCV000346357 benign Fibrochondrogenesis 1 2018-03-06 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 RCV000292881 SCV000346359 benign Stickler syndrome type 2 2018-03-06 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 RCV000252849 SCV000516215 benign not specified 2016-09-29 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.
Mendelics RCV000332848 SCV001135383 benign Fibrochondrogenesis 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001510951 SCV001718116 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582487 SCV001821586 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000332848 SCV001821588 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001705594 SCV001821589 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000292881 SCV001821590 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276556 SCV002566716 benign Connective tissue disorder 2022-07-18 criteria provided, single submitter clinical testing
OMIM RCV000018675 SCV000038958 risk factor Lumbar disk herniation, susceptibility to 2007-12-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000252849 SCV001744191 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000252849 SCV001809224 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252849 SCV001957281 benign not specified no assertion criteria provided clinical testing

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