ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr) (rs786201632)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164008 SCV000214612 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-04 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence;in silico models in agreement (benign)
Invitae RCV000197368 SCV000255165 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-10-21 criteria provided, single submitter clinical testing
Color RCV000164008 SCV000689360 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586686 SCV000699708 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2885T>C (p.Ile962Thr) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 120908 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Counsyl RCV000662667 SCV000785366 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-07-14 criteria provided, single submitter clinical testing

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