ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.204C>A (p.Arg68=)

gnomAD frequency: 0.00010  dbSNP: rs559187375
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001523746 SCV001733516 benign Mucopolysaccharidosis type 6 2024-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001523746 SCV002084986 likely benign Mucopolysaccharidosis type 6 2020-04-17 no assertion criteria provided clinical testing

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