ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV001375673 SCV001572592 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-04-01 no assertion criteria provided research The change c.1442delGinsTC (p.S481Ifs*18) was detected in a family with two affected male sibs with severe phenotypes, hails from the state of Madhya Pradesh, India. Two sibs harbouring this variation had severe phenotypes based on clinical, biochemical and severity scores.

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