Submissions for variant NM_153704.6(TMEM67):c.25G>A (p.Val9Met)

gnomAD frequency: 0.00225  dbSNP: rs199961375

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173581	SCV000224705	benign	not specified	2015-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001704249	SCV000730171	likely benign	not provided	2020-11-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25412400)
Invitae	RCV000860917	SCV001001098	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Mendelics	RCV000988093	SCV001137675	benign	Joubert syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485119	SCV002797371	likely benign	COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11	2021-07-07	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001704249	SCV004224198	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975260	SCV004798174	likely benign	TMEM67-related condition	2020-02-17	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).