ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.639C>T (p.Asp213=)

gnomAD frequency: 0.00001  dbSNP: rs1266367694
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 RCV001474320 SCV001678489 likely benign Metachromatic leukodystrophy 2024-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001474320 SCV002081667 likely benign Metachromatic leukodystrophy 2021-07-06 no assertion criteria provided clinical testing

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