ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) (rs146162276)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203817 SCV000259786 likely benign Charcot-Marie-Tooth disease type 4 2020-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001722118 SCV000292685 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21291453, 32376792)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000235858 SCV000341539 benign not specified 2016-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153403 SCV001314689 uncertain significance Mononeuropathy of the median nerve, mild 2017-09-06 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 RCV001153404 SCV001314690 benign Charcot-Marie-Tooth disease, type 4C 2017-09-06 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 RCV000789697 SCV001336276 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287846 SCV001474583 likely benign none provided 2019-12-09 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789697 SCV000929073 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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