Submissions for variant NM_004826.4(ECEL1):c.1656G>A (p.Lys552=)

gnomAD frequency: 0.00451  dbSNP: rs1190429

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193922	SCV000247253	likely benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953189	SCV001099749	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000953189	SCV001914434	benign	not provided	2020-09-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000953189	SCV004033868	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	ECEL1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000953189	SCV005259543	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891758	SCV000310693	benign	ECEL1-related disorder	2023-02-14	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).
Clinical Genetics, Academic Medical Center	RCV000193922	SCV001923104	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000953189	SCV001964754	likely benign	not provided		no assertion criteria provided	clinical testing