Submissions for variant NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)

gnomAD frequency: 0.01375  dbSNP: rs3087476

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117871	SCV000152143	benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001102029	SCV001258677	benign	Meier-Gorlin syndrome 1	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512736	SCV001720196	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001512736	SCV005284566	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001512736	SCV002033891	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001512736	SCV002036464	likely benign	not provided		no assertion criteria provided	clinical testing