ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.181T>C (p.Ser61Pro) (rs113993955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata RCV000206790 SCV000262518 pathogenic Mucopolysaccharidosis, MPS-II 2010-01-27 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092169 SCV001248550 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing

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