ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.232+3A>G

dbSNP: rs2116971996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562353 SCV001785104 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003223422 SCV003919152 uncertain significance Myoclonic dystonia 11 2023-04-25 criteria provided, single submitter clinical testing

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