ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5554-3C>T

gnomAD frequency: 0.00555  dbSNP: rs190765118
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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 RCV000405893 SCV000387693 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278398 SCV000387694 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974284 SCV001122100 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000974284 SCV003800077 benign not provided 2023-07-27 criteria provided, single submitter clinical testing

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