ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.192G>A (p.Glu64=)

gnomAD frequency: 0.00012  dbSNP: rs145415848
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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 RCV000243546 SCV000311470 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727100 SCV000705697 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727100 SCV001038560 likely benign not provided 2024-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000243546 SCV001653071 likely benign not specified 2020-06-04 criteria provided, single submitter clinical testing The p.Glu64Glu variant in CIB2 is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. ACMG/AMP Criteria applied: BP4, BP7.
GeneDx RCV000727100 SCV001792973 likely benign not provided 2021-03-06 criteria provided, single submitter clinical testing

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