Submissions for variant NM_004560.4(ROR2):c.717C>T (p.Cys239=)

gnomAD frequency: 0.00597  dbSNP: rs56302651

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000401720	SCV000480993	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.
Illumina Laboratory Services, Illumina	RCV000298671	SCV000480994	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881890	SCV001025090	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000881890	SCV001784894	likely benign	not provided	2021-10-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504195	SCV002805461	likely benign	Brachydactyly type B1; Autosomal recessive Robinow syndrome	2021-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000881890	SCV004184793	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ROR2: BP4, BP7, BS1, BS2