ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6269+13C>T

gnomAD frequency: 0.17268  dbSNP: rs11622977
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250300 SCV000305933 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289372 SCV000387671 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346615 SCV000387672 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812702 SCV001477606 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Invitae RCV001812702 SCV002405763 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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