ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4003-12T>C

gnomAD frequency: 0.06057  dbSNP: rs78707026
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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 RCV000246377 SCV000305909 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347404 SCV000387775 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408247 SCV000387776 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812691 SCV001477601 benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812691 SCV002370757 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812691 SCV005219454 likely benign not provided criteria provided, single submitter not provided

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