Submissions for variant NM_025114.4(CEP290):c.943-4C>T

gnomAD frequency: 0.00037  dbSNP: rs199770158

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238918	SCV000297325	uncertain significance	not specified	2015-11-16	criteria provided, single submitter	clinical testing
Invitae	RCV001083590	SCV000634666	likely benign	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2024-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727048	SCV000705160	uncertain significance	not provided	2017-02-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727048	SCV001370954	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CEP290: BP4
GeneDx	RCV000727048	SCV001939343	likely benign	not provided	2021-04-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519864	SCV003547893	uncertain significance	Inborn genetic diseases	2021-10-11	criteria provided, single submitter	clinical testing	The c.943-4C>T intronic alteration consists of a C to T substitution 4 nucleotides before coding exon 11 in the CEP290 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen	RCV000509374	SCV000606926	not provided	CEP290-related ciliopathies		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.