ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1108-77C>A

gnomAD frequency: 0.02721  dbSNP: rs6151424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527486 SCV001738516 likely benign Metachromatic leukodystrophy 2021-06-15 criteria provided, single submitter clinical testing

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