ClinVar Miner

Submissions for variant NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)

gnomAD frequency: 0.00006  dbSNP: rs547441862
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896822 SCV001040932 benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098267 SCV001254621 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001098267 SCV001984290 benign Meier-Gorlin syndrome 1 2020-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001098267 SCV002810748 likely benign Meier-Gorlin syndrome 1 2021-11-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940782 SCV004749945 likely benign ORC1-related disorder 2022-07-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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