ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1723dup (p.Glu575fs)

dbSNP: rs1555591335
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Total submissions: 2
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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) RCV000661128 SCV000783378 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507612 SCV000600263 likely pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing

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