ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.61A>T (p.Met21Leu)

dbSNP: rs35498994
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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 RCV000145583 SCV000192680 benign not specified 2013-06-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145583 SCV000227473 benign not specified 2014-06-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145583 SCV000313237 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401419 SCV000383557 benign Microcephaly 6, primary, autosomal recessive 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 Laboratory Services, Illumina RCV000309037 SCV000383558 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.
Athena Diagnostics Inc RCV000152967 SCV000841622 benign not provided 2017-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000152967 SCV001841943 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000152967 SCV002401021 benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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