ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.436T>A (p.Leu146Met)

dbSNP: rs752074255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337420 SCV000340927 uncertain significance not provided 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV001083911 SCV000638417 likely benign Myoclonic dystonia 11 2023-12-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001083911 SCV003819904 uncertain significance Myoclonic dystonia 11 2020-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977788 SCV004789411 likely benign SGCE-related disorder 2019-03-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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