ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1253+811A>C

dbSNP: rs10247562
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000576563 SCV000677482 benign Myoclonic dystonia 11 2017-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576563 SCV001721337 benign Myoclonic dystonia 11 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576563 SCV002055173 benign Myoclonic dystonia 11 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712892 SCV005271601 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000576563 SCV000734587 benign Myoclonic dystonia 11 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700224 SCV001917656 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700224 SCV001954296 benign not specified no assertion criteria provided clinical testing

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