ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) (rs199476390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004415 SCV001163455 likely pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000058998 SCV000090519 not provided not provided no assertion provided not provided

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