Submissions for variant NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser)

gnomAD frequency: 0.00016  dbSNP: rs201987892

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543892	SCV000639018	benign	Transposition of the great arteries, dextro-looped	2024-09-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000763795	SCV000894709	uncertain significance	Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002526114	SCV003716159	likely benign	Inborn genetic diseases	2021-08-12	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004691876	SCV005192009	uncertain significance	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004537968	SCV004721052	likely benign	MED13L-related disorder	2021-03-16	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).