ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9501+1G>A (rs397508058)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258387 SCV000328146 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585647 SCV000693550 likely pathogenic Familial cancer of breast 2020-01-01 criteria provided, single submitter clinical testing This variant is a substitution of the first nucleotide base of intron 25 of the BRCA2 gene. This position is conserved in the human and other genomes and might be involved in mRNA processing. Therefore, this variant is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The mutation database ClinVar contains entries for this variant (Variation ID: 52853).
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092812 SCV001249503 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Color RCV001189741 SCV001357099 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-25 criteria provided, single submitter clinical testing

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