ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) (rs121918173)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000170573 SCV000222669 likely pathogenic Non-immune hydrops fetalis 2013-01-13 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000000942 SCV000894433 likely pathogenic Mucopolysaccharidosis type 7 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000000942 SCV000021092 pathogenic Mucopolysaccharidosis type 7 1991-01-01 no assertion criteria provided literature only

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