ClinVar Miner

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

dbSNP: rs377720482
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Total submissions: 7
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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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000160906 SCV000261111 benign Hereditary cancer-predisposing syndrome 2024-01-22 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000780659 SCV002773951 benign not specified 2021-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000780659 SCV002035253 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796724 SCV002038108 likely benign not provided no assertion criteria provided clinical testing

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