ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)

gnomAD frequency: 0.66416  dbSNP: rs10820900
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000147392 SCV000231693 benign not specified 2014-10-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147392 SCV000310469 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299600 SCV000480991 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.
Illumina Laboratory Services, Illumina RCV000357148 SCV000480992 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522560 SCV001732132 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522560 SCV001871544 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000357148 SCV002033673 benign Brachydactyly type B1 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000299600 SCV002033674 benign Autosomal recessive Robinow syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522560 SCV005269269 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147392 SCV000194769 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000147392 SCV001743181 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000147392 SCV001956030 benign not specified no assertion criteria provided clinical testing

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