ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.883+1G>C (rs1602961831)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV000991290 SCV001055692 likely pathogenic Charcot-Marie-Tooth disease axonal type 2C 2019-12-12 criteria provided, single submitter clinical testing This substitution is located in the donor splice site of intron 1. Predicted change at donor site 1 bps upstream: -100.0%. Pathogenic computational verdict because 4 pathogenic predictions from DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions.

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