ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)

dbSNP: rs748454316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791186 SCV000930467 likely pathogenic Mucopolysaccharidosis type 6 2019-04-27 criteria provided, single submitter clinical testing

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