ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.3352C>G (p.Gln1118Glu)

gnomAD frequency: 0.00019  dbSNP: rs200341117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765366 SCV001998031 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001765366 SCV003467541 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001765366 SCV005187219 uncertain significance not provided criteria provided, single submitter not provided

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