ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.600G>T (p.Gln200His) (rs200061825)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145582 SCV000192678 uncertain significance Primary autosomal recessive microcephaly 6 2013-12-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313304 SCV000383535 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000145582 SCV000383536 uncertain significance Primary autosomal recessive microcephaly 6 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc RCV000711285 SCV000841621 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765128 SCV000896352 uncertain significance Primary autosomal recessive microcephaly 6; Seckel syndrome 4 2018-10-31 criteria provided, single submitter clinical testing

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