ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.279C>T (p.Val93=)

gnomAD frequency: 0.00001  dbSNP: rs756760904
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478188 SCV001682452 likely benign Metachromatic leukodystrophy 2021-11-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001478188 SCV001781240 uncertain significance Metachromatic leukodystrophy 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001478188 SCV002083907 likely benign Metachromatic leukodystrophy 2020-02-14 no assertion criteria provided clinical testing

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