ClinVar Miner

Submissions for variant NM_000046.4(ARSB):c.-322dup

dbSNP: rs11424557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000277172 SCV000458400 likely benign Mucopolysaccharidosis type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000277172 SCV001719131 benign Mucopolysaccharidosis type 6 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001653701 SCV001867417 benign not provided 2019-08-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28137300)

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