ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) (rs17081389)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145558 SCV000167656 benign not specified 2014-04-28 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.
Genetic Services Laboratory, University of Chicago RCV000145558 SCV000192651 likely benign not specified 2013-02-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352245 SCV000383553 benign Seckel syndrome 4 2018-01-12 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 Clinical Services Laboratory,Illumina RCV000020849 SCV000383554 benign Primary autosomal recessive microcephaly 6 2018-01-12 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 RCV000145558 SCV000612718 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145558 SCV000859123 benign not specified 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV000952714 SCV001099236 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000020849 SCV000041437 benign Primary autosomal recessive microcephaly 6 2009-09-01 no assertion criteria provided curation Converted during submission to Benign.

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