ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6023-8C>T

gnomAD frequency: 0.17449  dbSNP: rs56181906
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241964 SCV000305931 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260752 SCV000387679 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299613 SCV000387680 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812701 SCV000605304 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812701 SCV002407309 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812701 SCV005219436 likely benign not provided criteria provided, single submitter not provided

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