ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1909+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466735 SCV004216700 likely pathogenic Bardet-Biedl syndrome 14 2023-02-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818354 SCV005071902 pathogenic Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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