ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.449del (p.Thr150fs)

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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 RCV003468052 SCV004193552 likely pathogenic Retinitis pigmentosa 25 2022-12-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889303 SCV004704676 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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