ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.*16G>A

gnomAD frequency: 0.73170  dbSNP: rs2230578
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180605 SCV000233079 benign not specified 2016-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180605 SCV000310459 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305022 SCV000480911 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 RCV000357547 SCV000480912 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001689719 SCV001908401 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000305022 SCV002033668 benign Brachydactyly type B1 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000357547 SCV002033669 benign Autosomal recessive Robinow syndrome 2021-11-07 criteria provided, single submitter clinical testing

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