ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.118G>C (p.Asp40His)

gnomAD frequency: 0.00001  dbSNP: rs1967935603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051437 SCV001215591 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-08-31 criteria provided, single submitter clinical testing

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