ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.666T>C (p.Phe222=)

gnomAD frequency: 0.01896  dbSNP: rs17102119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000247242 SCV000305935 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312623 SCV000387883 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346394 SCV000387884 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812703 SCV000884600 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Invitae RCV001812703 SCV002447586 benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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