ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2472T>G (p.Thr824=) (rs1358470664)

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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 RCV000781779 SCV000920104 uncertain significance not specified 2017-09-12 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.2472T>G (p.Thr824Thr) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120592 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000632269 SCV000753441 likely benign Hereditary cancer-predisposing syndrome 2017-09-18 criteria provided, single submitter clinical testing

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