ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.181T>C (p.Ser61Pro)

dbSNP: rs113993955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000206790 SCV000262518 pathogenic Mucopolysaccharidosis, MPS-II 2010-01-27 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001092169 SCV001248550 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000206790 SCV002014488 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing

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