ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)

gnomAD frequency: 0.00013  dbSNP: rs147290567
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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 RCV002088008 SCV002376357 likely benign Mucopolysaccharidosis, MPS-IV-A 2025-01-14 criteria provided, single submitter clinical testing

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