ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)

gnomAD frequency: 0.00261  dbSNP: rs539329891
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173350 SCV000224450 likely benign not specified 2017-09-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363075 SCV000481015 benign Brachydactyly type B1 2018-01-12 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 RCV000272869 SCV000481016 benign Autosomal recessive Robinow syndrome 2018-01-12 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 RCV001309610 SCV001499115 benign not provided 2024-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485118 SCV002797379 likely benign Brachydactyly type B1; Autosomal recessive Robinow syndrome 2021-10-19 criteria provided, single submitter clinical testing

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