ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.301+11A>C (rs1555596621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586019 SCV000698992 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.301+11A>C variant involves the alteration of a non-conserved intronic nucleotide with one in silico tool (MutationTaster) predicting a benign outcome, along with 5/5 splice prediction tools predicting no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was not found in controls (ExAC, 1000 Gs or ESP), nor has it been to our knowledge reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant has been classified as a "VUS-possibly benign," until additional information becomes available.
GeneDx RCV000607541 SCV000732608 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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