Submissions for variant NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)

gnomAD frequency: 0.35277  dbSNP: rs10949483

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117782	SCV000152042	benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000117782	SCV000170759	benign	not specified	2013-06-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000117782	SCV000203095	benign	not specified	2016-04-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117782	SCV000317086	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280891	SCV000461758	benign	Lafora disease	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000280891	SCV000743888	benign	Lafora disease	2014-10-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312189	SCV000845989	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000280891	SCV001729333	benign	Lafora disease	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000280891	SCV002026760	benign	Lafora disease	2021-09-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117782	SCV005087444	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 71% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 66. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000280891	SCV000734492	benign	Lafora disease		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675658	SCV000801359	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing