ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1523-412C>T

gnomAD frequency: 0.00003  dbSNP: rs1381940328
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376368 SCV001573485 likely pathogenic Leber congenital amaurosis 10 2021-04-08 criteria provided, single submitter research The CEP290 c.1523-412C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.

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