ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.886G>T (p.Glu296Ter)

dbSNP: rs876660125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital RCV000494920 SCV000583514 pathogenic Hereditary breast ovarian cancer syndrome 2017-07-11 no assertion criteria provided clinical testing This variant produces a truncated protein with a lost of 76% of the total protein.

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