Submissions for variant NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) (rs2229920)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145914	SCV000193051	likely benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000145914	SCV000269030	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ala713Ala in exon 19 of DNM2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 29.1% (2504/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229920).
PreventionGenetics,PreventionGenetics	RCV000145914	SCV000305624	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000312099	SCV000410383	benign	Myopathy, centronuclear, 1	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 Clinical Services Laboratory,Illumina	RCV000860397	SCV000410384	benign	Charcot-Marie-Tooth disease, dominant intermediate B	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.
Athena Diagnostics Inc	RCV000145914	SCV000613151	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV000860397	SCV001000438	benign	Charcot-Marie-Tooth disease, dominant intermediate B	2020-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001668288	SCV001882104	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics,Academic Medical Center	RCV000145914	SCV001924711	benign	not specified		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV000145914	SCV001959640	benign	not specified		no assertion criteria provided	clinical testing