Submissions for variant NM_001271208.2(NEB):c.10347+6C>T (rs141088433)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000241822	SCV000614162	likely benign	not specified	2015-09-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000241822	SCV000528499	benign	not specified	2016-07-08	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.
Integrated Genetics/Laboratory Corporation of America	RCV000590292	SCV000697798	benign	not provided	2017-04-24	criteria provided, single submitter	clinical testing	Variant summary: The NEB c.10347+6C>T variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 925/120680 control chromosomes (19 homozygotes) at a frequency of 0.0076649, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. The variant is more common in East Asian sub-population with allele frequency of 5.4% (464/8590 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Therefore, the variant of interest has been classified as Benign.
Invitae	RCV000527635	SCV000640486	benign	Nemaline myopathy 2	2017-12-26	criteria provided, single submitter	clinical testing
PreventionGenetics	RCV000241822	SCV000307185	benign	not specified		criteria provided, single submitter	clinical testing