Submissions for variant NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)

gnomAD frequency: 0.03294  dbSNP: rs2066518

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179473	SCV000231728	benign	not specified	2014-10-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179473	SCV000312045	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360766	SCV000427344	benign	Schimke immuno-osseous dysplasia	2018-03-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000360766	SCV000636837	benign	Schimke immuno-osseous dysplasia	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000360766	SCV001761797	benign	Schimke immuno-osseous dysplasia	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001610497	SCV001833044	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 17089404, 25748404, 20981092)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294070	SCV002587244	benign	Focal segmental glomerulosclerosis	2022-09-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000360766	SCV004562995	benign	Schimke immuno-osseous dysplasia	2023-11-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610497	SCV005243951	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000360766	SCV001453745	benign	Schimke immuno-osseous dysplasia	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000179473	SCV001929743	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000179473	SCV001959007	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001610497	SCV002036622	likely benign	not provided		no assertion criteria provided	clinical testing