ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1328G>A (p.Arg443His)

gnomAD frequency: 0.00006  dbSNP: rs752079707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391465 SCV000387859 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281463 SCV000387860 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137921 SCV003825702 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing

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