ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.400C>A (p.Leu134Met) (rs876658195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221937 SCV000273125 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or Conflicting Evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000463838 SCV000547272 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Color RCV000221937 SCV000684276 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing

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