ClinVar Miner

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

dbSNP: rs1554093168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578393 SCV000680379 likely pathogenic Neuropathy, hereditary motor and sensory, type 6B 2017-12-09 criteria provided, single submitter clinical testing
OMIM RCV001380423 SCV001578492 pathogenic Pontocerebellar hypoplasia, type 1E 2021-05-06 no assertion criteria provided literature only

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