ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.299+3322C>T

gnomAD frequency: 0.00001  dbSNP: rs387907486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668552 SCV000793174 likely benign Hurler syndrome 2017-07-31 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054778 SCV000077468 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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