ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.547+14G>A (rs932782447)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419029 SCV000515530 likely benign not specified 2016-04-27 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589244 SCV000699260 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: c.547+14G>A in BRCA1 gene is an intronic change that involves a non-conserved nucleotide. 3/5 programs in Alamut predict that this variant does not have a major effect on splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control population datasets of ExAC and gnomAD. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports or cited by a reputable database/clinical laboratory. Considering all, the variant has been currently classified as a variant of uncertain significance until additional information becomes available.
Invitae RCV001078922 SCV000759388 likely benign Hereditary breast and ovarian cancer syndrome 2020-08-11 criteria provided, single submitter clinical testing

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