ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1525-17C>T

gnomAD frequency: 0.00001  dbSNP: rs2534096872
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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 RCV003756577 SCV004552972 likely benign Mucopolysaccharidosis type 1 2022-12-21 criteria provided, single submitter clinical testing

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