ClinVar Miner

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

gnomAD frequency: 0.00037  dbSNP: rs199770158
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Total submissions: 7
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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 2024-04-01 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.

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