ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) (rs587777880)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000143810 SCV001475234 likely pathogenic not provided 2020-01-27 criteria provided, single submitter clinical testing Not found in the gnomAD exomes dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Segregation with disease in affected individuals from a single family.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143810 SCV000188703 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Genesis Genome Database RCV000857200 SCV000999782 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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