ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.279C>T (p.Val93=) (rs756760904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000924868 SCV001070394 likely benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Invitae RCV001478188 SCV001682452 likely benign Metachromatic leukodystrophy 2020-11-16 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001478188 SCV001781240 uncertain significance Metachromatic leukodystrophy 2021-07-14 criteria provided, single submitter clinical testing

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