ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314501 SCV004013937 likely pathogenic Hereditary spherocytosis type 2 2023-06-30 criteria provided, single submitter clinical testing PVS1, PM2

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