ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) (rs41278630)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180646 SCV000233125 likely benign not specified 2014-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000658493 SCV000251729 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27582484, 26143526, 16043786, 24450158, 22492563, 19889647)
Invitae RCV000205710 SCV000260582 benign Charcot-Marie-Tooth disease, type 2 2020-12-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180646 SCV000312239 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321170 SCV000347980 likely benign Hereditary motor and sensory neuropathy with optic atrophy 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000205710 SCV000347981 likely benign Charcot-Marie-Tooth disease, type 2 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658493 SCV000780261 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000986246 SCV001135181 likely benign Charcot-Marie-Tooth disease, type 2A2A 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172690 SCV001335756 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284861 SCV001470954 likely benign none provided 2019-12-14 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000180646 SCV001918605 benign not specified no assertion criteria provided clinical testing

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