ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1170-16G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005197383 SCV005831194 likely benign Charcot-Marie-Tooth disease type 2E 2024-04-17 criteria provided, single submitter clinical testing

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