ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.39G>A (p.Arg13=)

gnomAD frequency: 0.00003  dbSNP: rs779005784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163264 SCV000213792 likely benign Hereditary cancer-predisposing syndrome 2014-10-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000163264 SCV000559106 likely benign Hereditary cancer-predisposing syndrome 2023-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430720 SCV004161369 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing RAD50: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003430720 SCV004220120 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000023 (3/129192 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect RAD50 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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