ClinVar Miner

Submissions for variant NM_178335.3(CCDC50):c.678A>G (p.Lys226=)

gnomAD frequency: 0.18258  dbSNP: rs2028573
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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 RCV000041447 SCV000065142 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Lys226Lys in Exon 06 of CCDC50: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 39.2% (1467/3738) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2028573)."
PreventionGenetics, part of Exact Sciences RCV000041447 SCV000316624 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041447 SCV000732296 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054820 SCV002339114 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054820 SCV005298327 benign not provided criteria provided, single submitter not provided

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