Submissions for variant NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)

dbSNP: rs41277835

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147390	SCV000194767	uncertain significance	Autosomal recessive Robinow syndrome	2014-07-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000180606	SCV000233080	benign	not specified	2015-09-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262682	SCV000480913	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	RCV000147390	SCV000480914	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513925	SCV000609600	likely benign	not provided	2017-05-15	criteria provided, single submitter	clinical testing
Invitae	RCV000513925	SCV001103934	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513925	SCV001155664	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ROR2: BP4, BS2
GeneDx	RCV000513925	SCV001785731	likely benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000513925	SCV001979669	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000513925	SCV001979909	likely benign	not provided		no assertion criteria provided	clinical testing