ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1422G>T (p.Gln474His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research RCV004018056 SCV004847249 uncertain significance Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 2024-03-07 no assertion criteria provided research

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