Submissions for variant NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)

gnomAD frequency: 0.00049  dbSNP: rs142912356

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000658888	SCV000780688	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	SLC25A12: BS1:Supporting
Fulgent Genetics, Fulgent Genetics	RCV000765536	SCV000896851	uncertain significance	Developmental and epileptic encephalopathy, 39	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000658888	SCV001001660	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000765536	SCV003823363	uncertain significance	Developmental and epileptic encephalopathy, 39	2021-08-11	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000658888	SCV004225002	uncertain significance	not provided	2022-08-30	criteria provided, single submitter	clinical testing	BS2
PreventionGenetics, part of Exact Sciences	RCV003892509	SCV004711144	likely benign	SLC25A12-related condition	2022-05-10	criteria provided, single submitter	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).