ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.822G>A (p.Glu274=)

gnomAD frequency: 0.00001  dbSNP: rs1160519179
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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 RCV000977173 SCV001125087 likely benign Mucopolysaccharidosis type 1 2024-01-07 criteria provided, single submitter clinical testing

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