Submissions for variant NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu)

dbSNP: rs6847454

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443191	SCV000519394	benign	not specified	2016-01-11	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000443191	SCV000539139	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 42% of total chromosomes in ExAC
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513621	SCV001721270	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702472	SCV001933344	benign	Hennekam lymphangiectasia-lymphedema syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702772	SCV001933345	benign	Van Maldergem syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000443191	SCV004233161	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 66% of patients studied by a panel of primary immunodeficiencies. Number of patients: 63. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001513621	SCV005302751	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000443191	SCV001922153	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000443191	SCV001974835	benign	not specified		no assertion criteria provided	clinical testing