ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.3764+8C>T

gnomAD frequency: 0.00005  dbSNP: rs200257205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244084 SCV002512347 uncertain significance Elliptocytosis 3; Hereditary spherocytosis type 2 2021-10-04 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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