Submissions for variant NM_001291303.3(FAT4):c.12214-5C>T

gnomAD frequency: 0.38645  dbSNP: rs17009761

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435538	SCV000519336	benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001514365	SCV001722193	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702375	SCV001933368	benign	Hennekam lymphangiectasia-lymphedema syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702449	SCV001933369	benign	Van Maldergem syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000435538	SCV004233353	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 52% of patients studied by a panel of primary immunodeficiencies. Number of patients: 49. Only high quality variants are reported.
Clinical Genetics, Academic Medical Center	RCV000435538	SCV001925913	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000435538	SCV001957879	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000435538	SCV001970648	benign	not specified		no assertion criteria provided	clinical testing