ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4001+11_4001+15dup (rs587779302)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 RCV000074967 SCV000253114 likely benign Lynch syndrome 2015-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina 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

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