Submissions for variant NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys)

gnomAD frequency: 0.00089  dbSNP: rs141725964

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428320	SCV000511985	benign	not specified	2015-05-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000903058	SCV001047509	likely benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000428320	SCV001142955	benign	not specified	2020-03-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000903058	SCV001147705	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	COQ8A: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003950342	SCV004767081	likely benign	COQ8A-related disorder	2019-10-11	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).