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

dbSNP: rs2066742

Total submissions: 7

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	2015-06-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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.
GeneDx	RCV000588864	SCV001869298	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002478382	SCV002046730	benign	not specified	2021-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000128943	SCV002440589	benign	Hereditary cancer-predisposing syndrome	2024-02-01	criteria provided, single submitter	clinical testing