ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.551_552delinsT (p.Pro184fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759637 SCV005368408 pathogenic Autosomal recessive bestrophinopathy 2024-10-01 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PM3_SUP

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