ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1002+307G>C

dbSNP: rs866140272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001578533 SCV001547870 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate)
GeneDx RCV001572328 SCV001796946 likely benign not provided 2019-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30305043, 30809705)

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