Submissions for variant NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)

gnomAD frequency: 0.00136  dbSNP: rs905287265

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591369	SCV000708100	uncertain significance	not provided	2017-04-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000591369	SCV001025204	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000591369	SCV001827579	benign	not provided	2020-02-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002532609	SCV003684120	likely benign	Inborn genetic diseases	2021-08-16	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	RCV000591369	SCV004032584	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TRIO: BS1
PreventionGenetics, part of Exact Sciences	RCV004553337	SCV004763396	likely benign	TRIO-related disorder	2023-04-27	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).