Submissions for variant NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)

dbSNP: rs41298151

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000203291	SCV000258324	uncertain significance	Congenital diaphragmatic hernia	2015-03-03	criteria provided, single submitter	research	It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family.
PreventionGenetics, part of Exact Sciences	RCV000249912	SCV000316039	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289080	SCV000479113	benign	Oculotrichoanal 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 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	RCV002057046	SCV002357657	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002057046	SCV004161920	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FREM1: BS1, BS2