Submissions for variant NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) (rs4988347)

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Total submissions: 14

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000120407	SCV000150071	benign	not specified	2017-12-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001082551	SCV000166684	benign	Familial cancer of breast; Fanconi anemia, complementation group J	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000116162	SCV000172953	benign	Hereditary cancer-predisposing syndrome	2017-12-08	criteria provided, single submitter	clinical testing	No disease association in appropriately sized case-control study(ies);Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification;In silico models in agreement (benign);Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Counsyl	RCV000410203	SCV000489853	likely benign	Fanconi anemia, complementation group J	2016-07-05	criteria provided, single submitter	clinical testing
Counsyl	RCV000411259	SCV000489854	likely benign	Neoplasm of ovary	2016-07-05	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120407	SCV000600925	benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000589840	SCV000699730	benign	not provided	2016-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000589840	SCV000807154	likely benign	not provided	2017-08-11	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000589840	SCV000889221	benign	not provided	2016-08-19	criteria provided, single submitter	clinical testing
Color	RCV000116162	SCV000910543	likely benign	Hereditary cancer-predisposing syndrome	2014-12-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000990029	SCV001140793	likely benign	Familial cancer of breast	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000410203	SCV001157291	benign	Fanconi anemia, complementation group J	2019-01-29	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000410203	SCV001287318	benign	Fanconi anemia, complementation group J	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ITMI	RCV000120407	SCV000084559	not provided	not specified	2013-09-19	no assertion provided	reference population

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