Submissions for variant NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)

gnomAD frequency: 0.00156  dbSNP: rs35852786

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000288113	SCV000337328	likely benign	not specified	2015-11-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000509126	SCV000480961	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	RCV000279061	SCV000480962	likely 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 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	RCV000891712	SCV001035539	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000891712	SCV001767148	likely benign	not provided	2020-06-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000891712	SCV004160112	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ROR2: BP4, BS2
GenomeConnect, ClinGen	RCV000509126	SCV000607056	not provided	Brachydactyly type B1		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.