Submissions for variant NM_005529.7(HSPG2):c.6402G>A (p.Val2134=)

gnomAD frequency: 0.03814  dbSNP: rs12742444

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000289771	SCV000338725	benign	not specified	2016-03-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294008	SCV000354827	benign	Lethal Kniest-like 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	RCV000330249	SCV000354828	benign	Schwartz-Jampel 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.
Invitae	RCV001518512	SCV001727219	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001518512	SCV001752139	benign	not provided	2018-08-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000294008	SCV001933191	benign	Lethal Kniest-like syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000330249	SCV001933192	benign	Schwartz-Jampel syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278294	SCV002566781	benign	Connective tissue disorder	2022-06-03	criteria provided, single submitter	clinical testing