ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.551+19G>A (rs17166050)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245201 SCV000311250 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590288 SCV000698657 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The RAD50 c.551+19G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant along with 4/5 splice site tools predicting the variant not to have an impact on splicing. This variant was found in 24021/120846 control chromosomes (2524 homozygotes) at a frequency of 0.1987736, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this variant is a common benign polymorphism. Taken together, this variant is classified as Benign.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000611007 SCV000743990 benign Nijmegen breakage syndrome-like disorder 2017-07-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611007 SCV000734378 benign Nijmegen breakage syndrome-like disorder no assertion criteria provided clinical testing

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