ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1293C>T (p.Ala431=)

gnomAD frequency: 0.00298  dbSNP: rs559676638
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 RCV000973648 SCV001121416 likely benign Mucopolysaccharidosis type 1 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000973648 SCV002075350 likely benign Mucopolysaccharidosis type 1 2017-05-06 no assertion criteria provided clinical testing

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