ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2923-5dup (rs2066742)

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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 RCV000128943 SCV000172741 likely benign Hereditary cancer-predisposing syndrome 2012-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128943 SCV000172818 likely benign Hereditary cancer-predisposing syndrome 2013-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128943 SCV000184483 likely benign Hereditary cancer-predisposing syndrome 2013-10-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588864 SCV000698653 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.2923-5dupT variant involves the insertion of a nucleotide in the intronic region. One in silico tool predicts a damaging outcome for this variant. 5/5 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 2771/115606 control chromosomes (257 homozygotes) at a frequency of 0.0239693, which is approximately 383 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this variant is a benign polymorphism. In addition, another clinical diagnostic laboratory classified this variant as likely benign, without evidence to independently evaluate. Taken together, this variant is classified as benign.

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