ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.335T>A (p.Val112Asp)

dbSNP: rs2082690324
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001172248 SCV000999154 likely pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing

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