ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1636-9del (rs762814289)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588305 SCV000698641 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.1636-9delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1862/79398 control chromosomes at a frequency of 0.0234515, which is approximately 375 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.

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