ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)

gnomAD frequency: 0.00012  dbSNP: rs564151798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449357 SCV001652471 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280453 SCV001467633 uncertain significance Autosomal recessive retinitis pigmentosa 2020-08-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003963175 SCV004785830 likely benign EYS-related disorder 2020-06-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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