ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1568del (p.Leu523fs) (rs1555591543)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625757 SCV000746290 pathogenic Breast-ovarian cancer, familial 1 2017-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012173 SCV001172596 pathogenic Hereditary cancer-predisposing syndrome 2018-07-12 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Academic Center for Education, Culture and Research, Motamed Cancer Institute RCV000778094 SCV000914203 pathogenic Breast-ovarian cancer, familial 2 2019-05-21 no assertion criteria provided clinical testing

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