ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1213+6T>C (rs1554074118)

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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 RCV000677466 SCV000802973 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Splicing variant in NON-canonical site (PVS1); in vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2);

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