ClinVar Miner

Submissions for variant NM_001254.4(CDC6):c.1321G>A (p.Val441Ile)

gnomAD frequency: 0.22496  dbSNP: rs13706
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116607 SCV000307117 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989847 SCV000402578 benign Meier-Gorlin syndrome 5 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000989847 SCV001140438 benign Meier-Gorlin syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001519141 SCV001727959 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001519141 SCV001885482 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17000706, 19233139)
Genetic Services Laboratory, University of Chicago RCV000116607 SCV000150571 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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