ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)

dbSNP: rs1909818289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001261588 SCV001547966 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate); protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4_moderate)
Fulgent Genetics, Fulgent Genetics RCV001261588 SCV005641456 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-01-16 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261588 SCV001438857 pathogenic Mucopolysaccharidosis, MPS-IV-A no assertion criteria provided clinical testing

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