ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.558C>T (p.Asn186=)

gnomAD frequency: 0.00001  dbSNP: rs574416131
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891071 SCV001034860 benign Metachromatic leukodystrophy 2025-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000891071 SCV001456236 likely benign Metachromatic leukodystrophy 2020-04-30 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729737 SCV001979224 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729737 SCV001980512 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003940682 SCV004752477 likely benign ARSA-related disorder 2019-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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