ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) (rs141862602)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198589 SCV000253431 likely benign Charcot-Marie-Tooth disease, type 1C 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000235771 SCV000292597 likely benign not specified 2017-05-24 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 RCV000198589 SCV001277381 uncertain significance Charcot-Marie-Tooth disease, type 1C 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789999 SCV001337359 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789999 SCV000929388 likely pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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