ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.177C>T (p.Thr59=)

gnomAD frequency: 0.04465  dbSNP: rs2277503
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246783 SCV000305898 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304940 SCV000387903 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343468 SCV000387904 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001682995 SCV001473902 benign not provided 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001682995 SCV001899913 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001682995 SCV002369307 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682995 SCV005219474 likely benign not provided criteria provided, single submitter not provided

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