ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1479C>G (p.Pro493=)

dbSNP: rs370394527
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001456967 SCV001660761 likely benign Mucopolysaccharidosis type 1 2023-12-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675614 SCV000801312 likely benign not provided 2018-01-24 no assertion criteria provided clinical testing
Natera, Inc. RCV001456967 SCV002075368 likely benign Mucopolysaccharidosis type 1 2019-05-28 no assertion criteria provided clinical testing

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