ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) (rs786205673)

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Total submissions: 2
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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 RCV000170584 SCV000222680 likely pathogenic Non-immune hydrops fetalis 2014-12-29 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001283824 SCV001469237 pathogenic Mucopolysaccharidosis type 7 2020-09-10 no assertion criteria provided clinical testing

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