ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.269T>C (p.Leu90Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003991753 SCV004809953 likely pathogenic Mucopolysaccharidosis type 6 2024-04-04 criteria provided, single submitter clinical testing

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