ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.145+12T>G (rs377297129)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127693 SCV000171272 benign not specified 2014-02-26 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.
Counsyl RCV000410695 SCV000490071 likely benign Fanconi anemia, complementation group O 2016-10-25 criteria provided, single submitter clinical testing
Counsyl RCV000411797 SCV000490072 likely benign Breast-ovarian cancer, familial 3 2016-10-25 criteria provided, single submitter clinical testing
Color RCV000579441 SCV000686326 likely benign Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing
Mendelics RCV000410695 SCV001140709 likely benign Fanconi anemia, complementation group O 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000410695 SCV001282773 uncertain significance Fanconi anemia, complementation group O 2017-04-27 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 RCV000411797 SCV001285751 uncertain significance Breast-ovarian cancer, familial 3 2017-04-27 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Leiden Open Variation Database RCV001195010 SCV001365244 uncertain significance not provided 2014-11-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport.

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