ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=)

gnomAD frequency: 0.05857  dbSNP: rs4902310
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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 RCV000254525 SCV000305925 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382354 SCV000387733 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289779 SCV000387734 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812696 SCV000605301 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Invitae RCV001812696 SCV002337254 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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