ClinVar Miner

Submissions for variant NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)

gnomAD frequency: 0.00472  dbSNP: rs3087473
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891921 SCV000309982 benign ORC1-related condition 2019-05-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000347437 SCV000358083 likely benign Meier-Gorlin syndrome 1 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.
Genetic Services Laboratory, University of Chicago RCV000246237 SCV000596171 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513920 SCV000609660 likely benign not provided 2017-02-20 criteria provided, single submitter clinical testing
Invitae RCV000513920 SCV001012697 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513920 SCV001748146 benign not provided 2022-10-01 criteria provided, single submitter clinical testing ORC1: BP4, BS1, BS2

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