ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001162497 SCV001324452 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 1f 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172733 SCV001335799 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV001267223 SCV001445404 uncertain significance Inborn genetic diseases 2016-01-25 criteria provided, single submitter clinical testing

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