ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6557A>G (p.His2186Arg)

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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 RCV005011629 SCV005630390 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-03-24 criteria provided, single submitter clinical testing

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