Submissions for variant NM_004447.6(EPS8):c.2073A>G (p.Gln691=)

gnomAD frequency: 0.01177  dbSNP: rs61729666

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000612367	SCV000725058	benign	not specified	2017-11-17	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000612367	SCV000967086	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Gln691Gln in exon 19 of EPS8: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3.83% (395/10304) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs61729666).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881645	SCV001024835	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000881645	SCV001143873	benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000881645	SCV005235685	benign	not provided		criteria provided, single submitter	not provided