Submissions for variant NM_018127.7(ELAC2):c.368-4T>A

gnomAD frequency: 0.00657  dbSNP: rs139778647

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086399	SCV000290451	benign	Combined oxidative phosphorylation defect type 17	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000427690	SCV000520351	benign	not specified	2016-11-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV000676445	SCV003917894	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ELAC2: BP4, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316294	SCV004017444	benign	Prostate cancer, hereditary, 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676445	SCV005247926	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676445	SCV000802226	benign	not provided	2017-08-04	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967660	SCV004788025	benign	ELAC2-related disorder	2020-01-27	no assertion criteria provided	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).