ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)

dbSNP: rs74315474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000492011 SCV002073811 pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing
OMIM RCV000003224 SCV000023382 pathogenic Metachromatic leukodystrophy, severe 1993-12-01 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000492011 SCV000282194 pathogenic Metachromatic leukodystrophy 2016-01-10 no assertion criteria provided research

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