ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)

dbSNP: rs1555197766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599471 SCV000709797 pathogenic not provided 2014-03-21 criteria provided, single submitter clinical testing The R2122X nonsense variant in the CEP290 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, it is expected to be a disease-causing variant.
Baylor Genetics RCV003465350 SCV004216598 likely pathogenic Bardet-Biedl syndrome 14 2023-07-11 criteria provided, single submitter clinical testing

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