ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)

gnomAD frequency: 0.00013  dbSNP: rs75000411
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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 RCV000250010 SCV000305930 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356674 SCV000387681 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264319 SCV000387682 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812700 SCV002049519 likely benign not provided 2022-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812700 SCV004449313 benign not provided 2023-11-05 criteria provided, single submitter clinical testing

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