ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)

gnomAD frequency: 0.00031  dbSNP: rs373050209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591292 SCV000706374 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825130 SCV000966388 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala375Ala in exon 6 of CEACAM16: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3/8312 European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS).
GeneDx RCV000591292 SCV001796718 likely benign not provided 2019-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591292 SCV002407147 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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