ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1403G>A (p.Arg468His) (rs138382758)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000487518 SCV000841605 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487518 SCV000574747 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487518 SCV000331380 uncertain significance not provided 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000196650 SCV000251700 likely benign not specified 2017-12-01 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 RCV000312138 SCV000347988 likely benign Hereditary motor and sensory neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229623 SCV000290025 benign Charcot-Marie-Tooth disease, type 2 2017-12-14 criteria provided, single submitter clinical testing
OMIM RCV000002372 SCV000022530 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2010-04-01 no assertion criteria provided literature only

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