ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) (rs1085307112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000488421 SCV000537278 likely pathogenic Mucopolysaccharidosis, MPS-III-C 2017-01-11 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genome database and likely to be pathogenic by online software like Mutation taster, SIFT, Polyphen2, Mutation Accessor, LRT and FATHMM.

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