ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) (rs797044604)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000192446 SCV000223922 likely pathogenic Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5 2014-08-21 criteria provided, single submitter clinical testing

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