ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.1510C>T (p.Gln504Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV004795355 SCV005045645 pathogenic Cone-rod dystrophy and hearing loss 2 criteria provided, single submitter clinical testing

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