ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.299+1627G>A

gnomAD frequency: 0.00003  dbSNP: rs387907483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669654 SCV000794430 likely benign Hurler syndrome 2017-09-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042168 SCV005672437 uncertain significance Hypersulfaturia; Nephrolithiasis susceptibility caused by SLC26A1 2024-02-07 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054765 SCV000077455 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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