ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.436C>T (p.Leu146=)

gnomAD frequency: 0.00001  dbSNP: rs772789963
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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 RCV001429122 SCV001631834 likely benign Charcot-Marie-Tooth disease type 2E 2019-08-26 criteria provided, single submitter clinical testing

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