ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.*2C>A

gnomAD frequency: 0.00002  dbSNP: rs754312148
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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 RCV001172738 SCV001335804 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV002225803 SCV002504567 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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