ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1138A>G (p.Thr380Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004795280 SCV005415443 likely pathogenic Retinal dystrophy 2024-05-27 criteria provided, single submitter research

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