ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)

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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 RCV002287301 SCV002577576 likely pathogenic Hereditary spherocytosis type 3 2021-11-03 criteria provided, single submitter clinical testing PVS1, PM2

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