ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.466-18G>A

gnomAD frequency: 0.00001  dbSNP: rs542689643
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
PreventionGenetics, part of Exact Sciences RCV000252078 SCV000304459 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057363 SCV002382026 likely benign Metachromatic leukodystrophy 2023-11-29 criteria provided, single submitter clinical testing

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