ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2674A>G (p.Asn892Asp)

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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 RCV005003791 SCV005632395 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-04-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728217 SCV005339253 uncertain significance CEP290-related disorder 2024-04-23 no assertion criteria provided clinical testing The CEP290 c.2674A>G variant is predicted to result in the amino acid substitution p.Asn892Asp. 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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