ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001172249 SCV000999156 likely pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing
Amsterdam Leukodystrophy Center,Amsterdam UMC RCV001172249 SCV001424848 pathogenic Metachromatic leukodystrophy 2020-06-24 criteria provided, single submitter clinical testing Heterozygous - novel

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