Submissions for variant NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg)

gnomAD frequency: 0.00377  dbSNP: rs147863200

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087088	SCV000290144	benign	Transposition of the great arteries, dextro-looped	2024-01-29	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238804	SCV000297253	likely benign	not specified	2015-11-20	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000418348	SCV000511279	likely benign	not provided	2017-01-04	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000418348	SCV001949097	benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487081	SCV002802434	likely benign	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	2022-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000418348	SCV004132035	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	MED13L: BS1
PreventionGenetics, part of Exact Sciences	RCV004532946	SCV004731391	benign	MED13L-related disorder	2021-06-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).