Submissions for variant NM_001164508.2(NEB):c.13788+12C>G

gnomAD frequency: 0.14589  dbSNP: rs876657543

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215064	SCV000270604	likely benign	not specified	2014-12-19	criteria provided, single submitter	clinical testing	NEB exons 82-105 are organized in three repetitive blocks of 8 exons each and be cause these blocks are nearly identical in sequence, homologous exons (e.g., exo ns 82, 90, and 98) are co-amplified and sequenced (each amplicon consists of 6 a lleles). This variant represents a nonhomologous position within the three repet itive blocks (c.13788+12C, c.15246+12C, and c.16704+12G). The variable alleles a t this position are not expected to have clinical significance because these pos itions are not located within the splice consensus sequence.
PreventionGenetics, part of Exact Sciences	RCV000215064	SCV000307223	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000215064	SCV000529148	likely benign	not specified	2017-03-20	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.