Submissions for variant NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)

gnomAD frequency: 0.00141  dbSNP: rs199813223

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000691280	SCV000819032	likely benign	Joubert syndrome 20; Meckel syndrome, type 11	2024-01-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000691280	SCV000895032	uncertain significance	Joubert syndrome 20; Meckel syndrome, type 11	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001724141	SCV002545813	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	TMEM231: BP4
GeneDx	RCV001724141	SCV002571191	uncertain significance	not provided	2023-09-06	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003928169	SCV004739619	likely benign	TMEM231-related condition	2022-08-09	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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724141	SCV001954323	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724141	SCV001964911	uncertain significance	not provided		no assertion criteria provided	clinical testing