ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1086G>A (p.Lys362=)

dbSNP: rs1013536878
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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 RCV001173733 SCV001336847 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001400518 SCV001602322 likely benign Charcot-Marie-Tooth disease type 2E 2023-08-24 criteria provided, single submitter clinical testing

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