ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.436T>C (p.Leu146=)

dbSNP: rs752074255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872777 SCV001014646 likely benign Myoclonic dystonia 11 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264032 SCV002545528 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SGCE: BP4

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