ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) (rs1057518839)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414872 SCV000492701 likely pathogenic Tremor; EMG: neuropathic changes; Limb muscle weakness 2015-09-23 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415393 SCV000492749 likely pathogenic Sensorimotor neuropathy 2015-09-23 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196260 SCV001366825 likely pathogenic Gait disturbance; EMG: neuropathic changes; Sensorimotor neuropathy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state.

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