ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7588del (p.Glu2530fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INSERM U1051, Institut des Neurosciences de Montpellier RCV001249896 SCV001424171 pathogenic Retinitis pigmentosa 2020-06-24 criteria provided, single submitter research

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