ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile)

gnomAD frequency: 0.00103  dbSNP: rs3742601
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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 RCV000251527 SCV000305899 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389341 SCV000387833 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295049 SCV000387834 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812688 SCV002048660 likely benign not provided 2022-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812688 SCV002466223 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812688 SCV005219462 likely benign not provided criteria provided, single submitter not provided

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