Submissions for variant NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn)

gnomAD frequency: 0.00271  dbSNP: rs143368552

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000269652	SCV000458540	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269652	SCV000458541	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370004	SCV000458542	likely benign	Vitreoretinopathy	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000269652	SCV000744197	likely benign	Wagner syndrome	2015-12-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000949915	SCV001096189	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000949915	SCV004159051	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	VCAN: BP4, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000269652	SCV000745618	benign	Wagner syndrome	2015-02-05	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000949915	SCV001920048	likely benign	not provided		no assertion criteria provided	clinical testing