ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1566C>T (p.Gly522=)

gnomAD frequency: 0.00001  dbSNP: rs1378890744
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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 RCV001478964 SCV001683244 likely benign Mucopolysaccharidosis type 1 2023-03-23 criteria provided, single submitter clinical testing

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