ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.793-4G>T

gnomAD frequency: 0.00001  dbSNP: rs773734796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000929937 SCV001075578 likely benign Mucopolysaccharidosis type 1 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001571679 SCV001796191 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing

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