ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1561_1564dup (p.Tyr522fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, College of Basic Medicine, Army Medical University RCV004703362 SCV004801087 pathogenic Retinitis pigmentosa 26 criteria provided, single submitter clinical testing

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