ClinVar Miner

Submissions for variant NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=)

gnomAD frequency: 0.00319  dbSNP: rs73568059
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615577 SCV000711581 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Gly78Gly in exon 3 of CEACAM16: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.2% (50/4088) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs73568059).
GeneDx RCV000841271 SCV000983230 benign not provided 2019-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000841271 SCV001028308 benign not provided 2024-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000841271 SCV001159895 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498886 SCV002807670 likely benign Autosomal dominant nonsyndromic hearing loss 4B; Hearing loss, autosomal recessive 113 2021-09-27 criteria provided, single submitter clinical testing

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