ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1712A>G (p.His571Arg)

gnomAD frequency: 0.00005  dbSNP: rs376970201
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273411 SCV000343788 benign not specified 2016-08-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312844 SCV000480951 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 RCV000365373 SCV000480952 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000907684 SCV001052407 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480043 SCV002796048 likely benign Brachydactyly type B1; Autosomal recessive Robinow syndrome 2021-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907684 SCV004160111 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing ROR2: BS2

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