ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2088C>T (p.Tyr696=)

gnomAD frequency: 0.44353  dbSNP: rs10992063
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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 RCV000147386 SCV000194763 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147386 SCV000310463 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000147386 SCV000338366 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269125 SCV000480939 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 RCV000326426 SCV000480940 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.
Invitae RCV001522559 SCV001732131 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522559 SCV001850591 benign not provided 2018-10-16 criteria provided, single submitter clinical testing

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