ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) (rs199476352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409776 SCV000487120 pathogenic Metachromatic leukodystrophy 2016-10-10 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000058956 SCV000090477 not provided not provided no assertion provided not provided

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