Submissions for variant NM_172351.3(CD46):c.417A>G (p.Leu139=)

gnomAD frequency: 0.00583  dbSNP: rs12126088

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625016	SCV000743536	benign	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	2015-07-22	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625016	SCV000744811	benign	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958496	SCV001105344	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625016	SCV001258436	likely benign	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001553571	SCV001774470	benign	not specified	2021-07-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294360	SCV002587456	likely benign	Kidney disorder	2020-11-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000958496	SCV004125512	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CD46: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000958496	SCV005261190	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001553571	SCV001959871	benign	not specified		no assertion criteria provided	clinical testing