ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.914G>T (p.Arg305Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako RCV004701245 SCV005200399 uncertain significance Sialidosis type 2 2024-08-30 no assertion criteria provided research PM1, PM2, PM5

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