ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11077-19T>C (rs4303716)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589317 SCV000697803 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.11077-19T>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. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1707/19828 control chromosomes (134 homozygotes) at a frequency of 0.0860904, which is approximately 24 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. 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.

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