ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22266+18G>C (rs6721666)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081122 SCV000113030 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081122 SCV000307305 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586583 SCV000697813 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.22266+18G>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 71749/120734 control chromosomes (21816 homozygotes) at a frequency of 0.5942734, which is approximately 168 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.

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