Submissions for variant NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)

gnomAD frequency: 0.00485  dbSNP: rs140403186

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180438	SCV000232874	benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224409	SCV000281347	likely benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Athena Diagnostics Inc	RCV000180438	SCV000613695	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224409	SCV000884008	likely benign	not provided	2020-02-16	criteria provided, single submitter	clinical testing
Invitae	RCV000224409	SCV001023641	benign	not provided	2023-12-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096076	SCV001252264	benign	Lethal Kniest-like 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 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	RCV001096077	SCV001252265	benign	Schwartz-Jampel 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000224409	SCV001779110	likely benign	not provided	2020-09-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967445	SCV004781625	benign	HSPG2-related condition	2019-03-22	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).