Submissions for variant NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)

gnomAD frequency: 0.00117  dbSNP: rs145644275

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081097	SCV000113005	benign	not specified	2013-10-29	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514781	SCV000610719	likely benign	not provided	2017-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313779	SCV000847776	benign	Inborn genetic diseases	2016-09-07	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000514781	SCV001013449	benign	not provided	2024-01-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000608756	SCV001141887	likely benign	Aarskog syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000608756	SCV002797439	likely benign	Aarskog syndrome	2021-08-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905060	SCV004719070	likely benign	FGD1-related condition	2019-08-07	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608756	SCV000734790	likely benign	Aarskog syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514781	SCV001926818	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081097	SCV001958215	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514781	SCV001975626	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514781	SCV002036029	likely benign	not provided		no assertion criteria provided	clinical testing