ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)

gnomAD frequency: 0.00048  dbSNP: rs76283214
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000260948 SCV000387785 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316138 SCV000387786 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001507849 SCV001158833 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507849 SCV001713668 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930345 SCV004739921 likely benign SPTB-related disorder 2022-10-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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