Submissions for variant NM_030928.4(CDT1):c.915T>C (p.His305=)

gnomAD frequency: 0.83978  dbSNP: rs510862

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116655	SCV000314748	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001523131	SCV001732794	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000615225	SCV001806768	benign	Meier-Gorlin syndrome 4	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001523131	SCV001938747	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116655	SCV000150619	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	RCV000615225	SCV000733543	benign	Meier-Gorlin syndrome 4		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116655	SCV001958085	benign	not specified		no assertion criteria provided	clinical testing