ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10347+6C>T (rs141088433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000241822 SCV000614162 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000241822 SCV000528499 benign not specified 2016-07-08 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 RCV000590292 SCV000697798 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.10347+6C>T variant involves the alteration of a non-conserved intronic nucleotide and 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 925/120680 control chromosomes (19 homozygotes) at a frequency of 0.0076649, which is approximately 2 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 5.4% (464/8590 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Therefore, the variant of interest has been classified as Benign.
Invitae RCV000527635 SCV000640486 benign Nemaline myopathy 2 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241822 SCV000307185 benign not specified criteria provided, single submitter clinical testing

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