Submissions for variant NM_004463.3(FGD1):c.2268C>T (p.Cys756=)

gnomAD frequency: 0.00217  dbSNP: rs61734178

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174895	SCV000226288	benign	not specified	2015-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313034	SCV000848154	likely benign	Inborn genetic diseases	2016-11-03	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	RCV000895202	SCV001039231	benign	not provided	2024-12-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000895202	SCV005210531	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000895202	SCV001929826	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000895202	SCV001966771	likely benign	not provided		no assertion criteria provided	clinical testing