ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1297C>G (p.Leu433Val)

gnomAD frequency: 0.00009  dbSNP: rs201693608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951013 SCV001097364 likely benign Metachromatic leukodystrophy 2024-11-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000951013 SCV002081637 likely benign Metachromatic leukodystrophy 2020-02-14 no assertion criteria provided clinical testing
Gelb Laboratory, University of Washington RCV000951013 SCV005046739 not provided Metachromatic leukodystrophy no assertion provided in vitro

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