ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.13368+11A>G (rs112260335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215253 SCV000270601 likely benign not specified 2015-02-04 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 87, 95, and 103) are co-amplified and sequenced (each amplicon consists of 6 alleles). This variant represents a nonhomologous position within the three repe titive blocks (c.13368+11A, c.14826+11G, c.16284+11A). The variable alleles at t his position are not expected to have clinical significance because these positi ons are not located within the splice consensus sequence.
PreventionGenetics,PreventionGenetics RCV000215253 SCV000307210 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000215253 SCV000519526 likely benign not specified 2017-10-19 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.
Invitae RCV000870478 SCV001011976 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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