ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr)

dbSNP: rs2082930394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262268 SCV001440073 uncertain significance Hereditary spherocytosis type 2 2019-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812264 SCV001472031 uncertain significance not provided 2019-07-26 criteria provided, single submitter clinical testing

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