ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.807T>C (p.Tyr269=)

gnomAD frequency: 0.00155  dbSNP: rs115882528
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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 RCV000393095 SCV000387879 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294979 SCV000387880 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056406 SCV002485451 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056406 SCV002822142 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SPTB: BP4, BP7

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