Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160733 | SCV000211369 | benign | Hereditary cancer-predisposing syndrome | 2014-10-01 | criteria provided, single submitter | clinical testing | The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s). |
Invitae | RCV000587529 | SCV000253114 | likely benign | not provided | 2015-05-15 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000074967 | SCV000430981 | uncertain significance | Lynch syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Color | RCV000160733 | SCV000690426 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-25 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000587529 | SCV000695907 | benign | not provided | 2016-12-01 | criteria provided, single submitter | clinical testing | Variant summary: The MSH6 c.4001+11_4001+15dupAACTA variant results into duplication of five non-conserved nucleotides in intron 9 at a region not widely known to involve in splicing. Mutation taster predicts a benign outcome for this variant. In addition, 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 29/111750 control chromosomes from ExAC at a frequency of 0.0002595, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as Benign. |
Counsyl | RCV000663009 | SCV000786021 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2018-02-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000074967 | SCV000837930 | uncertain significance | Lynch syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing |