ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)

gnomAD frequency: 0.00176  dbSNP: rs114513294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000362894 SCV000387701 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270638 SCV000387702 uncertain significance Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003565403 SCV004324888 benign not provided 2023-08-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003565403 SCV004564111 likely benign not provided 2023-05-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003565403 SCV005191411 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930343 SCV004739006 benign SPTB-related disorder 2019-05-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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