Submissions for variant NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile)

gnomAD frequency: 0.04258  dbSNP: rs17459097

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000275039	SCV000354635	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	RCV000330138	SCV000354636	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001511119	SCV001156771	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001511119	SCV001718308	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001511119	SCV001831508	benign	not provided	2018-08-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278348	SCV002566714	benign	Connective tissue disorder	2022-04-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000275039	SCV004049321	benign	Lethal Kniest-like syndrome	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003343760	SCV004049322	benign	Schwartz-Jampel syndrome type 1	2023-04-11	criteria provided, single submitter	clinical testing