Submissions for variant NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) (rs149395439)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory,University of Chicago	RCV000192947	SCV000247212	benign	not specified	2015-10-28	criteria provided, single submitter	clinical testing
Invitae	RCV001082636	SCV000287118	benign	Charcot-Marie-Tooth disease, axonal, type 2O	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000270738	SCV000385060	benign	Autosomal dominant cerebellar ataxia	2018-01-13	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 Clinical Services Laboratory,Illumina	RCV001082636	SCV000385061	benign	Charcot-Marie-Tooth disease, axonal, type 2O	2018-01-13	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.
Athena Diagnostics Inc	RCV000711536	SCV000841914	benign	not provided	2018-03-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717137	SCV000847983	likely benign	History of neurodevelopmental disorder	2016-10-10	criteria provided, single submitter	clinical testing	In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001281842	SCV001157485	benign	none provided	2019-08-30	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172912	SCV001335987	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing