ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4214del (p.Ile1405fs)

dbSNP: rs273900728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112298 SCV000300093 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112298 SCV000325898 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112298 SCV000145032 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2009-04-28 no assertion criteria provided clinical testing
CZECANCA consortium RCV001271021 SCV001451835 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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