Submissions for variant NM_020247.5(COQ8A):c.618G>A (p.Val206=)

gnomAD frequency: 0.00220  dbSNP: rs115855910

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200743	SCV000251060	benign	not specified	2014-07-07	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.
Athena Diagnostics Inc	RCV000710073	SCV000612261	benign	not provided	2017-09-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000200743	SCV000707362	benign	not specified	2017-04-17	criteria provided, single submitter	clinical testing
Invitae	RCV000710073	SCV001108996	benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710073	SCV001371558	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	COQ8A: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003907729	SCV004725612	benign	COQ8A-related condition	2019-06-27	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).