ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=)

gnomAD frequency: 0.34399  dbSNP: rs184528
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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 RCV000253980 SCV000305922 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405536 SCV000387739 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297147 SCV000387740 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001753716 SCV000605290 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001753716 SCV001987303 benign not provided 2021-08-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808681 SCV002056773 benign Hereditary spherocytosis type 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001753716 SCV002408350 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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