Submissions for variant NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)

gnomAD frequency: 0.00113  dbSNP: rs144768563

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000908699	SCV000526852	benign	not provided	2019-05-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24074368)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000908699	SCV001053476	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000908699	SCV004148846	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FAT4: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000908699	SCV005302756	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000908699	SCV001809317	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000908699	SCV001969653	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972639	SCV004793784	likely benign	FAT4-related disorder	2019-06-24	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).