Submissions for variant NM_001173990.3(TMEM216):c.35-17C>T

gnomAD frequency: 0.00450  dbSNP: rs147953784

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253857	SCV000306947	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514311	SCV000609698	likely benign	not provided	2017-05-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514461	SCV001722309	benign	Familial aplasia of the vermis	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001538028	SCV001755015	benign	Joubert syndrome 2	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001538029	SCV001755016	benign	Meckel syndrome, type 2	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000514311	SCV001887542	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514311	SCV005224398	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000253857	SCV001979083	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000253857	SCV001980334	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001538028	SCV002091641	benign	Joubert syndrome 2	2019-12-19	no assertion criteria provided	clinical testing