Submissions for variant NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=)

gnomAD frequency: 0.14565  dbSNP: rs17009618

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437766	SCV000519330	benign	not specified	2016-01-20	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	RCV001513624	SCV001721273	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702648	SCV001933355	benign	Hennekam lymphangiectasia-lymphedema syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702647	SCV001933356	benign	Van Maldergem syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000437766	SCV004233445	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 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported.
Clinical Genetics, Academic Medical Center	RCV000437766	SCV001920253	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000437766	SCV001971335	benign	not specified		no assertion criteria provided	clinical testing