Submissions for variant NM_005984.5(SLC25A1):c.894T>C (p.Asp298=)

gnomAD frequency: 0.00340  dbSNP: rs144180074

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147501	SCV000194938	benign	not specified	2017-11-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000147501	SCV000518781	benign	not specified	2016-10-11	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.
Invitae	RCV000677069	SCV001106726	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000677069	SCV001962424	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SLC25A1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003917455	SCV004731157	likely benign	SLC25A1-related condition	2020-02-21	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).
Mayo Clinic Laboratories, Mayo Clinic	RCV000677069	SCV000802905	likely benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000147501	SCV002033978	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000677069	SCV002038480	likely benign	not provided		no assertion criteria provided	clinical testing