Submissions for variant NM_005529.7(HSPG2):c.4627-3del

gnomAD frequency: 0.00195  dbSNP: rs368983547

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177917	SCV000229876	likely benign	not specified	2015-03-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340865	SCV000354897	uncertain significance	Lethal Kniest-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000395489	SCV000354898	uncertain significance	Schwartz-Jampel syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000177917	SCV000842337	benign	not specified	2020-12-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711926	SCV001033844	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000177917	SCV001159642	likely benign	not specified	2018-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000711926	SCV001825208	likely benign	not provided	2020-04-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516760	SCV003555272	uncertain significance	Inborn genetic diseases	2020-11-04	criteria provided, single submitter	clinical testing	The c.4627-3delT alteration is located 3 nucleotides before coding exon 36 of the HSPG2 gene. This alteration results from a deletion of nucleotide at nucleotide position c.4627-3. Based on data from the Genome Aggregation Database (gnomAD) database, the HSPG2 c.4627-3delT alteration was observed in 0.22% (422/188312) of total alleles studied, with a frequency of 0.52% (99/18868) in the European (Finnish) subpopulation. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000711926	SCV004123455	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	HSPG2: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711926	SCV001800094	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711926	SCV001926322	likely benign	not provided		no assertion criteria provided	clinical testing