ClinVar Miner

Submissions for variant NM_004713.6(NEMF):c.807-2A>C

dbSNP: rs1892669150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198080 SCV001368865 likely pathogenic See cases 2020-03-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in homozygous state.
OMIM RCV001267817 SCV001445990 pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 2021-04-02 no assertion criteria provided literature only

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