Submissions for variant NM_004525.3(LRP2):c.6967C>T (p.Leu2323=)

gnomAD frequency: 0.00326  dbSNP: rs149367019

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000371052	SCV000419103	likely benign	Donnai-Barrow 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000964453	SCV001111665	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000371052	SCV002054832	benign	Donnai-Barrow syndrome	2021-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000964453	SCV002576058	likely benign	not provided	2020-10-08	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000964453	SCV004147264	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	LRP2: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000964453	SCV005256570	likely benign	not provided		criteria provided, single submitter	not provided