Submissions for variant NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)

gnomAD frequency: 0.99945  dbSNP: rs507329

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116652	SCV000314746	benign	not specified		criteria provided, single submitter	clinical testing
Mendelics	RCV000612563	SCV001140182	benign	Meier-Gorlin syndrome 4	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523129	SCV001732792	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000612563	SCV001806766	benign	Meier-Gorlin syndrome 4	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001523129	SCV001899411	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523129	SCV005252534	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116652	SCV000150616	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	RCV000612563	SCV000733542	benign	Meier-Gorlin syndrome 4		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116652	SCV001952039	benign	not specified		no assertion criteria provided	clinical testing