ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.759-67G>A

gnomAD frequency: 0.00305  dbSNP: rs565875595
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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 RCV001513402 SCV001547790 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Allele frequency is greater than expected for disorder (BS1_strong)
Labcorp Genetics (formerly Invitae), Labcorp RCV001513402 SCV001721016 benign Mucopolysaccharidosis, MPS-IV-A 2022-11-01 criteria provided, single submitter clinical testing

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