ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter)

dbSNP: rs1431523432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CMT Laboratory, Bogazici University RCV001353164 SCV001548325 likely pathogenic Charcot-Marie-Tooth disease type 1F 2020-12-01 criteria provided, single submitter clinical testing

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