Submissions for variant NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys)

gnomAD frequency: 0.00070  dbSNP: rs28942091

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000003596	SCV000557764	likely benign	Atrioventricular septal defect, susceptibility to, 2	2024-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658952	SCV000780754	likely benign	not provided	2018-03-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000658952	SCV005262564	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000003596	SCV000023754	risk factor	Atrioventricular septal defect, susceptibility to, 2	2014-03-31	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000658952	SCV001744301	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000658952	SCV001799856	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000658952	SCV001930548	likely benign	not provided		no assertion criteria provided	clinical testing