ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468044 SCV004193527 likely pathogenic Retinitis pigmentosa 25 2023-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003468044 SCV005672763 likely pathogenic Retinitis pigmentosa 25 2024-02-22 criteria provided, single submitter clinical testing

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