ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.-448+5G>A

gnomAD frequency: 0.00002  dbSNP: rs1175129177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073473 SCV001239016 uncertain significance Retinal dystrophy 2019-03-11 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376422 SCV001573551 uncertain significance Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.-448+5G>A 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: PM2, PM3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002554664 SCV003439496 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376422 SCV004192953 likely pathogenic Retinitis pigmentosa 25 2024-02-09 criteria provided, single submitter clinical testing

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