ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2581dup (p.Arg861fs)

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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 RCV003494060 SCV004242423 likely pathogenic Hereditary spherocytosis type 1 2024-01-29 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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