ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.508-1G>C

dbSNP: rs113993947
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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 RCV000207376 SCV000262710 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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