ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1398C>T (p.Gly466=)

gnomAD frequency: 0.00001  dbSNP: rs1370338557
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 RCV001279110 SCV002107634 likely benign Mucopolysaccharidosis type 1 2024-09-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279110 SCV001466177 uncertain significance Mucopolysaccharidosis type 1 2020-09-04 no assertion criteria provided clinical testing

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