ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.187G>C (p.Asp63His)

gnomAD frequency: 0.02151  dbSNP: rs7336216
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145560 SCV000192653 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000145560 SCV000313229 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394742 SCV000383551 benign Seckel syndrome 4 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.
Illumina Laboratory Services, Illumina RCV000020850 SCV000383552 benign Microcephaly 6, primary, autosomal recessive 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.
Athena Diagnostics Inc RCV000711279 SCV000841615 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV000711279 SCV001107467 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000711279 SCV001900970 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476998 SCV002797925 likely benign Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 2021-09-16 criteria provided, single submitter clinical testing
GeneReviews RCV000020850 SCV000041439 not provided Microcephaly 6, primary, autosomal recessive no assertion provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000711279 SCV001800382 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000145560 SCV001966109 benign not specified no assertion criteria provided clinical testing

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