ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)

dbSNP: rs1421520718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669885 SCV000794681 uncertain significance Hurler syndrome 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507168 SCV002815836 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2022-03-09 criteria provided, single submitter clinical testing

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