ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.891C>T (p.Ser297=)

gnomAD frequency: 0.00001  dbSNP: rs770536697
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001498448 SCV001703198 likely benign Metachromatic leukodystrophy 2023-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001498448 SCV001781237 uncertain significance Metachromatic leukodystrophy 2021-07-14 criteria provided, single submitter clinical testing

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