Submissions for variant NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)

gnomAD frequency: 0.00483  dbSNP: rs138139146

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152153	SCV000200853	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Glu2246Lys in Exon 21 of TRIOBP: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (37/6742) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs138139146).
Eurofins Ntd Llc (ga)	RCV000152153	SCV000227782	benign	not specified	2015-02-09	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000152153	SCV000257753	likely benign	not specified	2015-07-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152153	SCV000306117	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000973056	SCV000618173	benign	not provided	2018-09-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26969326, 28089734, 29197352)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973056	SCV001120791	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000973056	SCV001146244	likely benign	not provided	2019-02-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000973056	SCV005206443	likely benign	not provided		criteria provided, single submitter	not provided