ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.699C>G (p.Tyr233Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990520 SCV004807232 uncertain significance Multiple sulfatase deficiency 2024-03-26 criteria provided, single submitter clinical testing

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