ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV003327325 SCV004034116 likely pathogenic Mucopolysaccharidosis type 6 2023-07-01 criteria provided, single submitter research

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