ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr)

gnomAD frequency: 0.00004  dbSNP: rs368097230
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980654 SCV001128610 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890141 SCV004707486 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001274972 SCV001459616 uncertain significance Retinitis pigmentosa 25 2020-01-24 no assertion criteria provided clinical testing

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