ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5463_5464insT (p.His1822fs) (rs1057518636)

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Total submissions: 3
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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) RCV000661034 SCV000783279 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413916 SCV000492463 pathogenic Neoplasm of the breast criteria provided, single submitter research
Color RCV000775092 SCV000909197 pathogenic Hereditary cancer-predisposing syndrome 2018-06-15 criteria provided, single submitter clinical testing

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