Submissions for variant NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)

gnomAD frequency: 0.00215  dbSNP: rs181295720

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000369267	SCV000192687	likely benign	not specified	2018-11-07	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224123	SCV000280924	uncertain significance	not provided	2016-05-19	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga)	RCV000369267	SCV000338735	likely benign	not specified	2018-06-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000312529	SCV000392902	likely benign	Seckel syndrome 5	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.
Illumina Laboratory Services, Illumina	RCV000145590	SCV000392903	uncertain significance	Microcephaly 9, primary, autosomal recessive	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000224123	SCV000516583	likely benign	not provided	2020-03-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25996639)
Invitae	RCV000224123	SCV001110262	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224123	SCV001502204	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	CEP152: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003927424	SCV004738830	likely benign	CEP152-related condition	2020-11-02	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224123	SCV001798650	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224123	SCV001972908	likely benign	not provided		no assertion criteria provided	clinical testing