ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)

dbSNP: rs2112530498
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780642 SCV002021448 likely pathogenic Mucopolysaccharidosis type 6 2021-02-04 criteria provided, single submitter clinical testing
Mendelics RCV001780642 SCV002518525 pathogenic Mucopolysaccharidosis type 6 2022-05-04 criteria provided, single submitter clinical testing

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