Submissions for variant NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)

gnomAD frequency: 0.00009  dbSNP: rs199579239

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129202	SCV000183946	likely benign	Hereditary cancer-predisposing syndrome	2021-10-18	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.
Invitae	RCV000129202	SCV000289067	benign	Hereditary cancer-predisposing syndrome	2024-01-12	criteria provided, single submitter	clinical testing
Counsyl	RCV000662532	SCV000785102	uncertain significance	Nijmegen breakage syndrome-like disorder	2017-04-17	criteria provided, single submitter	clinical testing
Cancer Genomics Group, Japanese Foundation For Cancer Research	RCV001030512	SCV001193712	uncertain significance	Hereditary breast ovarian cancer syndrome	2019-05-01	criteria provided, single submitter	research
Sema4, Sema4	RCV000662532	SCV002538515	likely benign	Nijmegen breakage syndrome-like disorder	2022-01-02	criteria provided, single submitter	curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153413	SCV003843633	likely pathogenic	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing