ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.697_699del (p.Val233del) (rs1555593294)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505646 SCV000599902 pathogenic Breast-ovarian cancer, familial 1 2014-03-20 no assertion criteria provided research This variant has been previously reported as disease-causing and was found once in our study paternally inherited in an 11-year-old male with anaplastic medulloblastoma & paternal great aunts with early-onset breast cancer.

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