Submissions for variant NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)

gnomAD frequency: 0.00313  dbSNP: rs143543800

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180073	SCV000232438	benign	not specified	2015-02-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755283	SCV000603983	benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000755283	SCV001099379	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000986273	SCV001135212	likely benign	Schwartz-Jampel syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000986273	SCV001252590	benign	Schwartz-Jampel syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001096388	SCV001252591	benign	Lethal Kniest-like syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics	RCV000180073	SCV001477269	benign	not specified	2019-11-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000755283	SCV001897465	benign	not provided	2018-10-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277426	SCV002566710	likely benign	Connective tissue disorder	2020-11-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500515	SCV002795741	likely benign	Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1	2021-12-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755283	SCV004123427	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	HSPG2: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000755283	SCV005261803	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000755283	SCV001799609	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000180073	SCV001974796	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537500	SCV004742190	benign	HSPG2-related disorder	2019-03-01	no assertion criteria provided	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).