Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780769 | SCV000918297 | benign | not specified | 2017-12-29 | criteria provided, single submitter | clinical testing | Variant summary: The SUMF1 c.*10_*11delinsGT variant involves the alteration of two non-conserved nucleotides in 3'-UTR. One in silico tool predicts a benign outcome for this variant. The variant of interest has been commonly reported as two independent variants, c.*10A>G and c.*11A>T. Both independent variants have been reported in the large, broad control population, gnomAD: c.*10A>G in 135966/274896 controls chromosomes (0.4946) and c.*11A>T in 173567/275008 control chromsomes (0.6311). Both frequencies are significantly higher than the estimated maximal expected allele frequency of a pathogenic SUMF1 variant (0.001118), suggesting the variant of interest is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have cited each variant independent with classifications of "benign." Taken together, this variant is classified as benign. |
Mayo Clinic Laboratories, |
RCV000675754 | SCV000801474 | likely benign | not provided | 2015-10-22 | no assertion criteria provided | clinical testing |