ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala)

gnomAD frequency: 0.00862  dbSNP: rs199722340
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083199 SCV000752538 benign Mucopolysaccharidosis type 1 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000833240 SCV000975002 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833240 SCV005263631 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001083199 SCV002075373 benign Mucopolysaccharidosis type 1 2017-05-11 no assertion criteria provided clinical testing

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