Submissions for variant NM_001291303.3(FAT4):c.2944T>C (p.Leu982=)

gnomAD frequency: 0.74871  dbSNP: rs2940779

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443502	SCV000519328	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000443502	SCV000539141	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: 70% of total chromosomes in ExAC
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511553	SCV001718825	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702646	SCV001933348	benign	Hennekam lymphangiectasia-lymphedema syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702468	SCV001933349	benign	Van Maldergem syndrome 2	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000443502	SCV004232912	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 95% of patients studied by a panel of primary immunodeficiencies. Number of patients: 90. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001511553	SCV005302754	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000443502	SCV001919261	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000443502	SCV001965588	benign	not specified		no assertion criteria provided	clinical testing