ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.525T>A (p.Asp175Glu)

dbSNP: rs2089452549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329095 SCV001520417 uncertain significance Mucopolysaccharidosis, MPS-II 2019-12-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001329095 SCV003817547 uncertain significance Mucopolysaccharidosis, MPS-II 2022-11-02 criteria provided, single submitter clinical testing

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