ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1107+9G>A

gnomAD frequency: 0.00003  dbSNP: rs768146306
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 RCV000929561 SCV001075194 likely benign Metachromatic leukodystrophy 2024-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000929561 SCV001456231 uncertain significance Metachromatic leukodystrophy 2020-01-17 no assertion criteria provided clinical testing

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