ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1146G>A (p.Ala382=)

gnomAD frequency: 0.00003  dbSNP: rs752630853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350500 SCV001544904 likely benign Charcot-Marie-Tooth disease type 2 2024-12-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531609 SCV001746827 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing

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