ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21523-6del (rs56026241)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081118 SCV000113026 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081118 SCV000307297 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305612 SCV000416852 benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000081118 SCV000568088 benign not specified 2016-02-03 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 RCV000589830 SCV000697812 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: c.21523-6dupA in NEB gene is an intronic change that involves a mildly conserved nucleotide. 3/5 programs in Alamut predict that this variant does not have significant effect on the normal splicing pattern, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.6045 (49666 /82164chrs tested), including numerous homozygotes across multiple populations. The observed frequency exceed the maximum expected allele frequency for a pathogenic variant of 0.0035. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but cited as Benign by reputable databases/clinical laboratories. Considering all, the variant was classified as Benign.
Athena Diagnostics Inc RCV000589830 SCV001144714 benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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