ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3310-1G>A

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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 RCV003466679 SCV004216508 pathogenic Bardet-Biedl syndrome 14 2024-01-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818353 SCV005072151 pathogenic Retinal dystrophy 2012-01-01 criteria provided, single submitter clinical testing

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