ClinVar Miner

Submissions for variant NM_001254.4(CDC6):c.883G>A (p.Asp295Asn)

gnomAD frequency: 0.01566  dbSNP: rs4135012
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116610 SCV000150574 benign not specified 2013-06-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116610 SCV000307120 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122784 SCV001281544 benign Meier-Gorlin syndrome 5 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521622 SCV001730995 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001521622 SCV004138276 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CDC6: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001521622 SCV005247518 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116610 SCV001932490 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116610 SCV001951548 benign not specified no assertion criteria provided clinical testing

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