ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)

gnomAD frequency: 0.00004  dbSNP: rs376598131
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862611 SCV001003136 benign Charcot-Marie-Tooth disease type 2 2024-01-11 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172997 SCV001336072 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726347 SCV001961078 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001726347 SCV002504655 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002399864 SCV002708240 likely benign Inborn genetic diseases 2019-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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