Submissions for variant NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=)

gnomAD frequency: 0.35508  dbSNP: rs7284476

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036818	SCV000060473	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Gln1325Gln in Exon 08 of TRIOBP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 43.7% (2800/6406) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs7284476)."
PreventionGenetics, part of Exact Sciences	RCV000036818	SCV000306102	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000036818	SCV000717055	benign	not specified	2017-05-09	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.
Genome-Nilou Lab	RCV001838535	SCV002098774	benign	Autosomal recessive nonsyndromic hearing loss 28	2021-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054610	SCV002402905	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054610	SCV005277295	benign	not provided		criteria provided, single submitter	not provided