ClinVar Miner

Submissions for variant NM_005909.5(MAP1B):c.2079_2082del (p.Lys694fs)

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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 RCV005001975 SCV005627555 pathogenic Chromosome 5Q14.3 deletion syndrome, distal 2024-12-12 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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