ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.756+7del (rs377720482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160906 SCV000211603 benign Hereditary cancer-predisposing syndrome 2014-02-24 criteria provided, single submitter clinical testing The variant is found in BR-OV-HEREDIC panel(s).
Invitae RCV000160906 SCV000261111 benign Hereditary cancer-predisposing syndrome 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000411826 SCV000489571 likely benign Nijmegen breakage syndrome-like disorder 2016-11-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780659 SCV000918116 benign not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.756+7delT variant involves the alteration of a non-conserved intronic nucleotide and 4/5 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 157/276094 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.006342 (152/23968). This frequency is about 101 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.

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