ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.246G>A (p.Leu82=)

gnomAD frequency: 0.00002  dbSNP: rs1035210606
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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 RCV000677523 SCV000803034 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Very low frequence in GnomAd (PM2)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677523 SCV003259720 likely benign Mucopolysaccharidosis type 6 2024-10-17 criteria provided, single submitter clinical testing

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