ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)

gnomAD frequency: 0.71630  dbSNP: rs10761129
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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) RCV000147389 SCV000233078 benign not specified 2016-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147389 SCV000310465 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344414 SCV000480923 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 RCV001095340 SCV000480924 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.
Mendelics RCV000382446 SCV001137820 benign Autosomal dominant Robinow syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522558 SCV001732130 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522558 SCV001834226 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000344414 SCV002033670 benign Brachydactyly type B1 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095340 SCV002033671 benign Autosomal recessive Robinow syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522558 SCV005269260 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147389 SCV000194766 likely benign not specified no assertion criteria provided clinical testing

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