ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) (rs121908552)

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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 RCV000415234 SCV000492588 likely pathogenic Myotonia congenita 2016-06-23 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414792 SCV000492981 uncertain significance Muscle weakness; Myotonia 2014-06-11 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626662 SCV000747364 likely pathogenic Muscle weakness; Distal sensory impairment; Limb pain; Pain; EMG: myotonic discharges 2017-01-01 criteria provided, single submitter clinical testing

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