ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) (rs74315471)

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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 RCV000723992 SCV000230102 pathogenic not provided 2014-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000020321 SCV000799561 likely pathogenic Metachromatic leukodystrophy 2018-05-01 criteria provided, single submitter clinical testing
OMIM RCV000003220 SCV000023378 pathogenic Metachromatic leukodystrophy, severe 1993-07-01 no assertion criteria provided literature only
GeneReviews RCV000020321 SCV000040697 pathologic Metachromatic leukodystrophy 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000020321 SCV000680146 pathogenic Metachromatic leukodystrophy 2017-09-08 no assertion criteria provided clinical testing

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