ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1707G>T (p.Ser569=)

dbSNP: rs764370443
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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 RCV002741842 SCV003019446 likely benign Mucopolysaccharidosis type 1 2021-12-22 criteria provided, single submitter clinical testing

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