ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University RCV002291021 SCV002500011 likely pathogenic Hereditary spherocytosis type 4 2022-03-01 criteria provided, single submitter research

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