Submissions for variant NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)

gnomAD frequency: 0.00357  dbSNP: rs34491822

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147388	SCV000194765	uncertain significance	Brachydactyly, type B1Robinow syndrome, autosomal recessive	2013-08-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000180603	SCV000233075	uncertain significance	not provided	2016-04-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000337021	SCV000480929	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	RCV000398258	SCV000480930	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	RCV000180603	SCV001037334	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000180603	SCV002520323	uncertain significance	not provided	2022-05-12	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000180603	SCV004700302	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	ROR2: BS1, BS2