ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.666_667insTGTGGCTCTCTCCATAGGAAGCCCTGGACTCCT (p.Arg222_His223insCysGlySerLeuHisArgLysProTrpThrPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004698819 SCV005200619 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-08-16 criteria provided, single submitter clinical testing

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