Submissions for variant NM_005120.3(MED12):c.736-8A>C

gnomAD frequency: 0.22423  dbSNP: rs62609586

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081270	SCV000113178	benign	not specified	2014-01-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081270	SCV000310842	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003761746	SCV001000399	benign	FG syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775576	SCV002014145	benign	X-linked intellectual disability with marfanoid habitus	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775577	SCV002014146	benign	Blepharophimosis - intellectual disability syndrome, MKB type	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860366	SCV002014147	benign	FG syndrome 1	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713238	SCV005279471	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081270	SCV000151831	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081270	SCV001742368	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081270	SCV001956217	benign	not specified		no assertion criteria provided	clinical testing