ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.567-3C>T

gnomAD frequency: 0.00001  dbSNP: rs549597016
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Total submissions: 3
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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 RCV001521417 SCV001547745 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Allele frequency is greater than expected for disorder (BS1_strong)
Invitae RCV001521417 SCV001730758 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521417 SCV002044957 likely benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing

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