ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.*1256G>A

gnomAD frequency: 0.77789  dbSNP: rs2979704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311138 SCV000473105 benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712561 SCV005268960 benign not provided criteria provided, single submitter not provided

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