Submissions for variant NM_004153.4(ORC1):c.2580C>T (p.Asp860=)

gnomAD frequency: 0.00065  dbSNP: rs61756139

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000872701	SCV001014554	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096520	SCV001252739	uncertain significance	Meier-Gorlin syndrome 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000872701	SCV002496887	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	ORC1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003948192	SCV004761651	likely benign	ORC1-related condition	2019-10-28	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).