ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1006+1G>T (rs869025308)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA RCV000207409 SCV000262711 pathogenic Mucopolysaccharidosis, MPS-II 2015-10-18 criteria provided, single submitter research Pathogenic variation identified in a Hunter syndrome male patient with I2S deficiency. He presents mental retardation, but no seizures, nor hydrocephaly.

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