ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.384_386del (p.Leu129del)

dbSNP: rs1180227844
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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 RCV000677554 SCV000803067 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Protein length changes as a result of in-frame deletion (PM4); Absent from GnomAD (PM2)

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