Submissions for variant NM_004463.3(FGD1):c.2047-5C>A

gnomAD frequency: 0.00005  dbSNP: rs368646447

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000735105	SCV000863304	uncertain significance	not provided	2018-09-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002422634	SCV002726174	likely benign	Inborn genetic diseases	2018-01-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000735105	SCV003504490	benign	not provided	2024-12-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000735105	SCV004700531	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	FGD1: BP4, BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252495	SCV001428252	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing