ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2001dup (p.Leu668fs) (rs80357521)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220934 SCV000276010 pathogenic Hereditary cancer-predisposing syndrome 2015-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other ACMG-defined mutation (i.e. initiation codon or gross deletion),Rarity in general population databases (dbSNP, ESP, 1000 Genomes),Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA1) RCV000083024 SCV000144271 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083024 SCV000325210 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083024 SCV000299683 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000590409 SCV000698906 pathogenic Hereditary breast and ovarian cancer syndrome 2016-02-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083024 SCV000115098 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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