Submissions for variant NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)

gnomAD frequency: 0.00503  dbSNP: rs61753389

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000509535	SCV000358066	likely benign	Meier-Gorlin syndrome 1	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 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	RCV000501625	SCV000596168	benign	not specified	2017-04-19	criteria provided, single submitter	clinical testing
Invitae	RCV000870938	SCV001012514	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000509535	SCV002798004	likely benign	Meier-Gorlin syndrome 1	2021-09-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000870938	SCV004123817	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ORC1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003940123	SCV004749826	benign	ORC1-related condition	2019-06-27	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).
GenomeConnect, ClinGen	RCV000509535	SCV000607092	not provided	Meier-Gorlin syndrome 1		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.