Submissions for variant NM_005120.3(MED12):c.3797G>A (p.Arg1266His)

gnomAD frequency: 0.00001  dbSNP: rs587780391

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117599	SCV000151826	uncertain significance	not provided	2014-03-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117599	SCV000202991	uncertain significance	not provided	2014-03-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000117599	SCV000714817	likely benign	not provided	2021-04-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25852444, 28454995)
Invitae	RCV003595863	SCV001721644	benign	FG syndrome	2023-10-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985272	SCV004738997	likely benign	MED12-related disorder	2020-03-19	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).
CeGaT Center for Human Genetics Tuebingen	RCV000117599	SCV005041551	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MED12: PP2, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117599	SCV001928688	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117599	SCV001955142	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117599	SCV001976335	likely benign	not provided		no assertion criteria provided	clinical testing