ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1190-17_1190-16insA

gnomAD frequency: 0.00401  dbSNP: rs201559436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180475 SCV000232925 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523427 SCV001733130 benign Mucopolysaccharidosis type 1 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001571241 SCV001795672 likely benign not provided 2019-12-10 criteria provided, single submitter clinical testing

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