ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10452+9A>G (rs117270796)

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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 RCV000179679 SCV000231967 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000179679 SCV000531954 benign not specified 2016-12-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000376433 SCV000416945 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587109 SCV000697799 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.10452+9A>G variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 4/5 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 579/62270 control chromosomes (14 homozygotes) from ExAC at a frequency of 0.0092982, which is approximately 3 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 8.4% (382/4544 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000548009 SCV000640488 benign Nemaline myopathy 2 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179679 SCV000307186 benign not specified criteria provided, single submitter clinical testing

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