ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)

gnomAD frequency: 0.00357  dbSNP: rs34491822
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147388 SCV000194765 uncertain significance Brachydactyly, type B1Robinow syndrome, autosomal recessive 2013-08-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000180603 SCV000233075 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337021 SCV000480929 benign Brachydactyly type B1 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 RCV000398258 SCV000480930 likely benign Autosomal recessive Robinow syndrome 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.
Invitae RCV000180603 SCV001037334 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000180603 SCV002520323 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000180603 SCV004700302 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ROR2: BS1

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