ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.345T>C (p.Asn115=)

gnomAD frequency: 0.00330  dbSNP: rs17180518
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372245 SCV000387893 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260673 SCV000387894 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812820 SCV002049559 benign not provided 2024-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812820 SCV003245717 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812820 SCV004136183 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SPTB: BP4, BP7

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