Submissions for variant NM_001039876.3(SYNE4):c.834G>C (p.Gln278His)

gnomAD frequency: 0.95594  dbSNP: rs2285422

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221990	SCV000269853	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Gln278His in exon 5 of SYNE4: This variant is not expected to have clinical sign ificance because it has been identified in 4.9% (402/8232) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2285422).
GeneDx	RCV000221990	SCV000717037	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001815252	SCV002062153	benign	Autosomal recessive nonsyndromic hearing loss 76	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054936	SCV002345085	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054936	SCV005307950	benign	not provided		criteria provided, single submitter	not provided