Submissions for variant NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)

gnomAD frequency: 0.00188  dbSNP: rs142458572

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000304921	SCV000354753	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000361897	SCV000354754	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc	RCV000518078	SCV000613746	likely benign	not specified	2021-03-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000518078	SCV000861152	likely benign	not specified	2018-05-22	criteria provided, single submitter	clinical testing
Invitae	RCV000884856	SCV001028258	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000884856	SCV001334598	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	HSPG2: BS1
GeneDx	RCV000884856	SCV001898922	benign	not provided	2019-08-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278356	SCV002566800	benign	Connective tissue disorder	2022-04-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002480072	SCV002802439	likely benign	Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1	2022-02-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000884856	SCV004237845	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000884856	SCV001799262	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000884856	SCV001969965	likely benign	not provided		no assertion criteria provided	clinical testing