ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) (rs201826605)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553823 SCV000627150 likely benign Mucopolysaccharidosis type 1 2020-12-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329096 SCV001520423 uncertain significance Mucopolysaccharidosis, MPS-I-S 2020-12-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001509227 SCV001715829 uncertain significance not provided 2020-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000553823 SCV001457278 uncertain significance Mucopolysaccharidosis type 1 2020-06-02 no assertion criteria provided clinical testing

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