ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)

gnomAD frequency: 0.00293  dbSNP: rs112464110
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175025 SCV000226449 benign not specified 2014-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891743 SCV001035575 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000987732 SCV001137170 benign Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000891743 SCV002504116 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000891743 SCV004011678 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing EYS: BP4
Natera, Inc. RCV000987732 SCV001463737 uncertain significance Retinitis pigmentosa 25 2020-06-15 no assertion criteria provided clinical testing

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