Submissions for variant NM_003289.4(TPM2):c.*8G>A

gnomAD frequency: 0.06243  dbSNP: rs56249943

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080085	SCV000111980	benign	not specified	2013-01-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080085	SCV000153062	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080085	SCV000269884	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	*8G>A in exon 9A of TPM2: This variant is not expected to have clinical signific ance because it has been identified in 8.9% (757/8480) of European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS; dbSNP rs56249943).
PreventionGenetics, part of Exact Sciences	RCV000080085	SCV000309554	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361185	SCV000479890	benign	Congenital myopathy 23	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 Laboratory Services, Illumina	RCV000398530	SCV000479891	benign	Arthrogryposis, distal, type 1A	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.
GeneDx	RCV000080085	SCV000519772	benign	not specified	2016-01-29	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000128670	SCV005272653	benign	not provided		criteria provided, single submitter	not provided
TPM2 homepage - Leiden Muscular Dystrophy pages	RCV000128670	SCV000172310	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000080085	SCV001921565	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000080085	SCV001930729	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080085	SCV001954772	benign	not specified		no assertion criteria provided	clinical testing