ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)

dbSNP: rs1554032099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV000656125 SCV000609479 pathogenic Mucopolysaccharidosis type 6 2015-12-01 criteria provided, single submitter research

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