Submissions for variant NM_030912.3(TRIM8):c.1192G>A (p.Gly398Ser)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002937772	SCV003259608	benign	not provided	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002937771	SCV003703599	likely benign	Inborn genetic diseases	2022-01-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV002937772	SCV004127295	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TRIM8: BP4
PreventionGenetics, part of Exact Sciences	RCV003963432	SCV004777177	likely benign	TRIM8-related disorder	2023-01-27	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).