Submissions for variant NM_001793.6(CDH3):c.805A>C (p.Met269Leu)

gnomAD frequency: 0.00341  dbSNP: rs36038900

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000326394	SCV000337867	likely benign	not specified	2015-12-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356369	SCV000398502	likely benign	EEM syndrome	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.
CeGaT Center for Human Genetics Tuebingen	RCV000658749	SCV000780538	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CDH3: BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000658749	SCV001110856	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000658749	SCV001836316	benign	not provided	2020-09-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000658749	SCV005218599	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000658749	SCV001799418	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000658749	SCV001922684	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000658749	SCV001972142	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920087	SCV004729290	benign	CDH3-related disorder	2019-06-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).