ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2887G>A (p.Glu963Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011673 SCV005632383 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-06-18 criteria provided, single submitter clinical testing

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