ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=)

gnomAD frequency: 0.00093  dbSNP: rs73273601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281513 SCV000387711 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338864 SCV000387712 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056404 SCV002432793 benign not provided 2021-11-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002056404 SCV003800434 benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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