ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) (rs1572829514)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268685 SCV001447802 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002903 SCV001160938 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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