ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.670-10A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005003800 SCV005632032 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733827 SCV005356723 uncertain significance CEP290-related disorder 2024-08-14 no assertion criteria provided clinical testing The CEP290 c.670-10A>G variant is predicted to interfere with splicing. However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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