ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) (rs6874630)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659031 SCV000780835 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV001089278 SCV001025079 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155785 SCV001317248 uncertain significance Mononeuropathy of the median nerve, mild 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.
Illumina Clinical Services Laboratory,Illumina RCV001155786 SCV001317249 benign Charcot-Marie-Tooth disease, type 4C 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172836 SCV001335909 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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