ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1269G>A (p.Leu423=)

gnomAD frequency: 0.25102  dbSNP: rs229586
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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 RCV000251470 SCV000305896 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368699 SCV000387867 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271794 SCV000387868 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001610597 SCV000605296 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001610597 SCV001834797 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808672 SCV002056784 benign Hereditary spherocytosis type 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001610597 SCV002480534 benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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