ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) (rs4988346)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120406 SCV000150070 benign not specified 2017-05-14 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 RCV001084461 SCV000153857 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000116161 SCV000185903 benign Hereditary cancer-predisposing syndrome 2014-08-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120406 SCV000314843 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000410926 SCV000489805 benign Fanconi anemia, complementation group J 2016-05-25 criteria provided, single submitter clinical testing
Counsyl RCV000412457 SCV000489806 benign Neoplasm of ovary 2016-05-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120406 SCV000600924 benign not specified 2017-07-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759713 SCV000889220 benign not provided 2017-07-04 criteria provided, single submitter clinical testing
Color RCV000116161 SCV000902553 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Mendelics RCV000990030 SCV001140794 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000410926 SCV001287319 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000120406 SCV000084558 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000116161 SCV000805254 likely benign Hereditary cancer-predisposing syndrome 2018-05-30 no assertion criteria provided clinical testing

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