ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) (rs743616)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078937 SCV000110798 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
GeneReviews RCV000020311 SCV000040686 benign Metachromatic leukodystrophy 2014-02-06 no assertion criteria provided literature only Pseudodeficiency.
Illumina Clinical Services Laboratory,Illumina RCV000020311 SCV000439431 benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675747 SCV000801465 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing
PreventionGenetics RCV000078937 SCV000304455 benign not specified criteria provided, single submitter clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000020311 SCV000853181 benign Metachromatic leukodystrophy 2017-06-07 no assertion criteria provided curation

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