ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)

gnomAD frequency: 0.00222  dbSNP: rs74056006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319100 SCV000387829 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373801 SCV000387830 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812813 SCV002049393 likely benign not provided 2021-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812813 SCV004308386 benign not provided 2024-01-07 criteria provided, single submitter clinical testing

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