Submissions for variant NM_014845.6(FIG4):c.2559G>A (p.Ser853=)

gnomAD frequency: 0.34581  dbSNP: rs1127771

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245906	SCV000312229	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321034	SCV000459649	benign	Amyotrophic lateral sclerosis type 11	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.
Illumina Laboratory Services, Illumina	RCV001095029	SCV000459650	benign	Charcot-Marie-Tooth disease type 4J	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000375677	SCV001000025	benign	Charcot-Marie-Tooth disease type 4	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173530	SCV001336620	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001706349	SCV001858524	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701902	SCV001933478	benign	Bilateral parasagittal parieto-occipital polymicrogyria	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000321034	SCV001933479	benign	Amyotrophic lateral sclerosis type 11	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001095029	SCV001933480	benign	Charcot-Marie-Tooth disease type 4J	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702397	SCV001933481	benign	Yunis-Varon syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000245906	SCV001744022	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000245906	SCV001808245	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000245906	SCV001923394	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000245906	SCV001932088	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000245906	SCV001965086	benign	not specified		no assertion criteria provided	clinical testing