ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1056+3A>C

gnomAD frequency: 0.00001  dbSNP: rs747923761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376359 SCV001573476 likely pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.1056+3A>C 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.
Baylor Genetics RCV001376359 SCV005060505 likely pathogenic Retinitis pigmentosa 25 2023-12-07 criteria provided, single submitter clinical testing

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