ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)

gnomAD frequency: 0.00197  dbSNP: rs229593
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000406158 SCV000387719 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310519 SCV000387720 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508364 SCV001714476 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing BP4, BP7
CeGaT Center for Human Genetics Tuebingen RCV001508364 SCV004134329 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SPTB: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001508364 SCV004269385 benign not provided 2023-11-07 criteria provided, single submitter clinical testing

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