ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1169+14G>A

gnomAD frequency: 0.00006  dbSNP: rs1281585043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173057 SCV001336132 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557483 SCV003298040 likely benign Charcot-Marie-Tooth disease type 2E 2022-02-16 criteria provided, single submitter clinical testing

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