Submissions for variant NM_058216.3(RAD51C):c.706-9T>A

dbSNP: rs1060504671

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000693879	SCV000822301	uncertain significance	Fanconi anemia complementation group O	2018-02-15	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RAD51C-related disease. This sequence change falls in intron 4 of the RAD51C gene. It does not directly change the encoded amino acid sequence of the RAD51C protein.
GeneDx	RCV002286781	SCV002577143	uncertain significance	not provided	2022-03-31	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge