ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.405C>T (p.Ser135=)

gnomAD frequency: 0.00009  dbSNP: rs201326626
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879576 SCV001022616 benign Mucopolysaccharidosis type 1 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000879576 SCV002075285 likely benign Mucopolysaccharidosis type 1 2017-05-05 no assertion criteria provided clinical testing

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