ClinVar Miner

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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