Submissions for variant NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)

gnomAD frequency: 0.00036  dbSNP: rs201724032

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152148	SCV000200847	benign	not specified	2016-05-21	criteria provided, single submitter	clinical testing	p.Ser2121Leu in exon 18 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.6% (46/7960) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201724032).
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000784920	SCV000923461	uncertain significance	Autosomal recessive nonsyndromic hearing loss 28	2019-01-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288530	SCV001475702	likely benign	not provided	2020-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001288530	SCV001772304	likely benign	not provided	2022-07-21	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001288530	SCV002486908	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001288530	SCV004011403	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TRIOBP: BS2
PreventionGenetics, part of Exact Sciences	RCV003952730	SCV004784239	likely benign	TRIOBP-related disorder	2020-03-10	no assertion criteria provided	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).