Submissions for variant NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)

gnomAD frequency: 0.00192  dbSNP: rs141202530

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224318	SCV000281537	uncertain significance	not provided	2016-05-12	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga)	RCV000224318	SCV000857613	uncertain significance	not provided	2017-11-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000224318	SCV000980508	benign	not provided	2019-12-04	criteria provided, single submitter	clinical testing
Invitae	RCV000224318	SCV001050157	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001195350	SCV001365696	likely benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Val368Met in exon 8 of SYNE4: This variant is not expected to have clinical significance because it has been identified in 0.5% (20/4058) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141202530).
PreventionGenetics, part of Exact Sciences	RCV003977638	SCV004794008	likely benign	SYNE4-related condition	2020-01-29	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).