ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1113A>G (p.Glu371=)

gnomAD frequency: 0.00001  dbSNP: rs137930942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173088 SCV001336164 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000863882 SCV001764859 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV002064474 SCV002388264 likely benign Charcot-Marie-Tooth disease type 4 2021-11-12 criteria provided, single submitter clinical testing

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