ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1149C>T (p.Asp383=) (rs6151425)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078935 SCV000110795 benign not specified 2013-09-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078935 SCV000304454 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335551 SCV000439432 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000335551 SCV000627136 benign Metachromatic leukodystrophy 2017-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675748 SCV000801466 likely benign not provided 2017-04-18 no assertion criteria provided clinical testing

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