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

Total submissions: 1

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);