ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) (rs1554093168)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578393 SCV000680379 likely pathogenic Neuropathy, hereditary motor and sensory, type 6B 2017-12-09 criteria provided, single submitter clinical testing

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