ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.564C>T (p.Ser188=)

gnomAD frequency: 0.00068  dbSNP: rs113209108
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 RCV000873116 SCV001015048 likely benign Metachromatic leukodystrophy 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873116 SCV001462389 likely benign Metachromatic leukodystrophy 2020-09-16 no assertion criteria provided clinical testing

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