ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6345+321A>G

gnomAD frequency: 0.12753  dbSNP: rs189086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310634 SCV000387657 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365346 SCV000387658 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705295 SCV005219431 likely benign not provided criteria provided, single submitter not provided

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