ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) (rs199476391)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000058946 SCV000110797 likely pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000150058 SCV000800617 uncertain significance Metachromatic leukodystrophy 2017-11-07 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000058946 SCV000090467 not provided not provided no assertion provided not provided

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