ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)

dbSNP: rs1554032205
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Total submissions: 2
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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 RCV000677507 SCV000803017 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2);
Baylor Genetics RCV000677507 SCV005055444 likely pathogenic Mucopolysaccharidosis type 6 2024-03-16 criteria provided, single submitter clinical testing

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