ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

dbSNP: rs2137423759
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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 RCV001535856 SCV001752469 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-06-30 criteria provided, single submitter clinical testing

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