ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn)

gnomAD frequency: 0.42630  dbSNP: rs229587
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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 RCV000243276 SCV000305897 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338831 SCV000387861 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391473 SCV000387862 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001640502 SCV000605295 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001640502 SCV001858233 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808673 SCV002056783 benign Hereditary spherocytosis type 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001640502 SCV002378435 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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