ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1254-9_1254-7del

dbSNP: rs201696689
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517989 SCV000615223 benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550790 SCV000638409 benign Myoclonic dystonia 11 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001644616 SCV001856114 benign not provided 2020-05-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001644616 SCV005074129 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SGCE: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003962436 SCV004780619 benign SGCE-related disorder 2019-03-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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