ClinVar Miner

Submissions for variant NM_001039876.3(SYNE4):c.*5T>C

gnomAD frequency: 0.00275  dbSNP: rs73928380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213515 SCV000269845 benign not specified 2014-11-24 criteria provided, single submitter clinical testing *5T>C in exon 8 of SYNE4: This variant is not expected to have clinical signific ance because it has been identified in 0.5% (21/4110) of African American chromo somes from a broad population by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS; dbSNP rs73928380).
GeneDx RCV001596990 SCV001831707 benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001596990 SCV005307947 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003955251 SCV004770070 likely benign SYNE4-related disorder 2019-11-26 no assertion criteria provided 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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