ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) (rs74315459)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666302 SCV000790571 likely pathogenic Metachromatic leukodystrophy 2017-04-04 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714802 SCV000845536 uncertain significance Pseudoarylsulfatase A deficiency 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000666302 SCV000923448 uncertain significance Metachromatic leukodystrophy 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000003206 SCV000023364 pathogenic Metachromatic leukodystrophy, late infantile 1993-08-01 no assertion criteria provided literature only

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