ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1275C>T (p.Gly425=)

gnomAD frequency: 0.00360  dbSNP: rs114329068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534593 SCV000528666 benign not provided 2019-09-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000423639 SCV000707904 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000640670 SCV000762265 benign Charcot-Marie-Tooth disease type 2E 2024-12-03 criteria provided, single submitter clinical testing

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