Submissions for variant NM_172351.3(CD46):c.796G>A (p.Asp266Asn)

gnomAD frequency: 0.00369  dbSNP: rs17006830

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974880	SCV001122751	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101799	SCV001258439	likely benign	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	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.
Genetic Services Laboratory, University of Chicago	RCV001819147	SCV002066597	benign	not specified	2019-03-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294431	SCV002587461	uncertain significance	Kidney disorder	2020-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001101799	SCV002806249	likely benign	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	2021-10-01	criteria provided, single submitter	clinical testing