ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.237C>T (p.Ala79=)

gnomAD frequency: 0.00002  dbSNP: rs769676234
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 RCV000940147 SCV001086004 likely benign Mucopolysaccharidosis type 1 2023-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000940147 SCV001452208 uncertain significance Mucopolysaccharidosis type 1 2020-01-17 no assertion criteria provided clinical testing

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