ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1181-1G>A (rs864622777)

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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 RCV000204452 SCV000262536 pathogenic Mucopolysaccharidosis, MPS-II 2011-12-05 criteria provided, single submitter research
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV000204452 SCV001573801 affects Mucopolysaccharidosis, MPS-II 2014-04-12 no assertion criteria provided research The change c.1181-1G>A is a known splice donor variant. This mutation is due to substitution of G to A at nucleotide position c.1181-1G>A in the intron 8 of IDS gene. It was detected in a hemizygous state in one patient with attenuated phenotype from Delhi, India.

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