ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.-40+7G>T (rs1555279969)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508126 SCV000600570 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing
Color RCV000581674 SCV000688681 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-20 criteria provided, single submitter clinical testing
Invitae RCV000868731 SCV001010099 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001113448 SCV001271221 uncertain significance Fanconi anemia, complementation group D1 2018-03-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001113449 SCV001271222 uncertain significance Breast-ovarian cancer, familial 2 2018-03-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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