ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.264-7C>T (rs753529790)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584208 SCV000691322 likely benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590633 SCV000698093 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing Variant summary: This variant affects a non-conserved nucleotide located in an intronic position outside of the canonical splice sites. 5/5 in silico tools via Alamut predict the variant not to have a negative impact on splicing along with mutation taster predicting the variant to be neutral. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0016% which does not exceed the maximal expected allele frequency of a disease causing RAD51D allele (0.012%). To our knowledge, the variant was has not been cited in patients and in vitro/vivo studies assessing the impact of the variant on protein function were not published at the time of scoring. Due to the lack of clinical information and the absence of functional studies, the variant was classified as a variant of uncertain significance until more information becomes available.
GeneDx RCV000610841 SCV000721360 likely benign not specified 2017-07-19 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.
Invitae RCV001089208 SCV001019839 likely benign Breast-ovarian cancer, familial 4 2019-12-31 criteria provided, single submitter clinical testing

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