ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2154A>C (p.Ile718=)

gnomAD frequency: 0.44391  dbSNP: rs229591
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248499 SCV000305901 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278626 SCV000387817 likely benign Spherocytosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352346 SCV000387818 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001707580 SCV000605294 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001707580 SCV001934967 benign not provided 2021-04-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808674 SCV002056782 benign Hereditary spherocytosis type 2 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001707580 SCV002410100 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707580 SCV005219460 likely benign not provided criteria provided, single submitter not provided

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