ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.937C>A (p.Arg313=)

dbSNP: rs551472773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940969 SCV001086841 benign Metachromatic leukodystrophy 2024-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000940969 SCV001456234 uncertain significance Metachromatic leukodystrophy 2020-01-17 no assertion criteria provided clinical testing

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