ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.294del (p.Phe98fs)

dbSNP: rs1562648373
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195964 SCV001366391 pathogenic Yunis-Varon syndrome 2019-10-02 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
OMIM RCV000001792 SCV000021948 pathogenic Charcot-Marie-Tooth disease type 4J 2007-07-05 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789113 SCV000928464 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000001792 SCV004174429 uncertain significance Charcot-Marie-Tooth disease type 4J 2016-01-06 no assertion criteria provided literature only

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