Submissions for variant NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)

gnomAD frequency: 0.19521  dbSNP: rs1800209

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116751	SCV000230321	benign	not specified	2014-11-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116751	SCV000311499	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000372934	SCV000384730	benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312074	SCV000845986	benign	Inborn genetic diseases	2016-03-02	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000610127	SCV001272775	benign	Neuronal ceroid lipofuscinosis 5	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001273177	SCV001721627	benign	Neuronal ceroid lipofuscinosis	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000610127	SCV001754972	benign	Neuronal ceroid lipofuscinosis 5	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675523	SCV001837543	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000116751	SCV002548413	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116751	SCV000150725	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610127	SCV000733370	benign	Neuronal ceroid lipofuscinosis 5		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675523	SCV000801214	benign	not provided	2015-10-19	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001273177	SCV001455837	benign	Neuronal ceroid lipofuscinosis	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000116751	SCV001809657	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116751	SCV001930687	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116751	SCV001955804	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116751	SCV001965958	benign	not specified		no assertion criteria provided	clinical testing