ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)

dbSNP: rs750154106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995191 SCV001149233 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000995191 SCV002541625 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489493 SCV002792701 uncertain significance Elliptocytosis 3; Hereditary spherocytosis type 2 2021-10-13 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002489493 SCV005416714 uncertain significance Elliptocytosis 3; Hereditary spherocytosis type 2 criteria provided, single submitter clinical testing PM2_Supporting+PM4

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