Submissions for variant NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) (rs4986765)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162379	SCV000212689	benign	Hereditary cancer-predisposing syndrome	2014-11-07	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
PreventionGenetics,PreventionGenetics	RCV000242120	SCV000314838	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000410880	SCV000404592	benign	Fanconi anemia, complementation group J	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl	RCV000410880	SCV000489871	benign	Fanconi anemia, complementation group J	2016-06-18	criteria provided, single submitter	clinical testing
Counsyl	RCV000412411	SCV000489872	benign	Neoplasm of ovary	2016-06-18	criteria provided, single submitter	clinical testing
Color	RCV000162379	SCV000537320	benign	Hereditary cancer-predisposing syndrome	2015-03-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000242120	SCV000538507	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000410880	SCV000602888	benign	Fanconi anemia, complementation group J	2018-07-02	criteria provided, single submitter	clinical testing
Invitae	RCV000755226	SCV000633629	benign	Familial cancer of breast; Fanconi anemia, complementation group J	2019-12-31	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000242120	SCV001364481	benign	not specified	2019-08-13	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitters to LOVD: Maximiliano Zeballos, Yukihide Momozawa.