ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.409_422+5del

dbSNP: rs2143004580
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Total submissions: 1
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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 RCV001578501 SCV001547679 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Deletion including splicing canonical site (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate)

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