Submissions for variant NM_004525.3(LRP2):c.2511C>T (p.Ala837=)

gnomAD frequency: 0.00034  dbSNP: rs375313914

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000331166	SCV000344754	benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000323402	SCV000419174	likely benign	Donnai-Barrow syndrome	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000897492	SCV001041638	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000323402	SCV002055496	benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000323402	SCV002806353	benign	Donnai-Barrow syndrome	2021-10-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000897492	SCV004147285	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	LRP2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000897492	SCV005256587	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000897492	SCV001800406	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000897492	SCV001966696	likely benign	not provided		no assertion criteria provided	clinical testing