ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.833C>T (p.Ala278Val)

gnomAD frequency: 0.00005  dbSNP: rs141544939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112411 SCV002389989 likely benign Mucopolysaccharidosis, MPS-IV-A 2024-06-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261451 SCV002541372 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing

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