Submissions for variant NM_001077418.3(TMEM231):c.-15C>T

gnomAD frequency: 0.00092  dbSNP: rs138060715

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000836180	SCV000978014	likely benign	not provided	2018-04-30	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	RCV001085321	SCV001091397	likely benign	Joubert syndrome 20; Meckel syndrome, type 11	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000836180	SCV002497934	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TMEM231: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003908128	SCV004723154	likely benign	TMEM231-related condition	2019-06-28	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000836180	SCV001977997	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000836180	SCV001980540	likely benign	not provided		no assertion criteria provided	clinical testing