Submissions for variant NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)

gnomAD frequency: 0.08581  dbSNP: rs17552022

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428331	SCV000517675	benign	not specified	2015-12-16	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	RCV001521288	SCV001730602	benign	Combined oxidative phosphorylation defect type 17	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001521288	SCV001875995	benign	Combined oxidative phosphorylation defect type 17	2021-07-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316539	SCV004017437	benign	Prostate cancer, hereditary, 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676438	SCV005247889	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676438	SCV000802219	benign	not provided	2016-02-25	no assertion criteria provided	clinical testing