ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.263G>A (p.Gly88Asp) (rs74315460)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001353057 SCV001548181 pathogenic Metachromatic leukodystrophy 2021-03-25 criteria provided, single submitter clinical testing
OMIM RCV000003207 SCV000023365 pathogenic Metachromatic leukodystrophy, severe 2018-11-07 no assertion criteria provided literature only

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