Submissions for variant NM_005262.3(GFER):c.189G>C (p.Glu63Asp)

gnomAD frequency: 0.00138  dbSNP: rs375792737

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000676336	SCV001149649	uncertain significance	not provided	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676336	SCV002431925	benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517217	SCV003667333	likely benign	Inborn genetic diseases	2021-12-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003619661	SCV004562814	likely benign	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	2023-09-18	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676336	SCV000802108	uncertain significance	not provided	2017-12-19	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937733	SCV004752736	likely benign	GFER-related disorder	2024-05-22	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).