ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)

gnomAD frequency: 0.00404  dbSNP: rs112454391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534418 SCV000629967 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-31 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000534418 SCV001547669 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Allele frequency is greater than expected for disorder (BS1_strong)
Genome-Nilou Lab RCV000534418 SCV002044964 likely benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing

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