ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1827C>T (p.Ser609=) (rs138724074)

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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 RCV000658494 SCV000780262 likely benign not provided 2018-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000198656 SCV000251704 benign not specified 2014-12-19 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 RCV000269301 SCV000347999 uncertain significance Hereditary motor and sensory neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206860 SCV000348000 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206860 SCV000261160 benign Charcot-Marie-Tooth disease, type 2 2017-12-17 criteria provided, single submitter clinical testing

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