ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.204G>A (p.Leu68=)

gnomAD frequency: 0.00105  dbSNP: rs145077630
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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 RCV000343687 SCV000387901 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408063 SCV000387902 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812821 SCV001473534 benign not provided 2022-06-30 criteria provided, single submitter clinical testing
Invitae RCV001812821 SCV004452103 benign not provided 2023-11-08 criteria provided, single submitter clinical testing

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