Submissions for variant NM_022458.4(LMBR1):c.528C>G (p.Ala176=)

dbSNP: rs138255184

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000274966	SCV000336197	benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302035	SCV000467801	benign	Polydactyly of a triphalangeal thumb	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000955386	SCV001102089	benign	not provided	2024-10-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000955386	SCV001754028	likely benign	not provided	2021-05-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000955386	SCV004159356	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	LMBR1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000955386	SCV005219904	likely benign	not provided		criteria provided, single submitter	not provided