ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3438+11_3438+14del (rs377746844)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160727 SCV000211361 benign Hereditary cancer-predisposing syndrome 2014-05-28 criteria provided, single submitter clinical testing The variant is found in BR-OV-HEREDIC panel(s).
Counsyl RCV000409153 SCV000489397 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-09-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074851 SCV000592641 uncertain significance Lynch syndrome 2012-11-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587375 SCV000695864 benign not provided 2017-04-12 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.3438+11_3438+14delCTTA variant involves the alteration of 4 intronic nucleotides. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 27/120966 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.002081 (18/8650). This frequency is about 15 times the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. Multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Additionally, the variant was detected in an internal specimen which also carries likely pathogenic MLH1 c.347delC. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000587375 SCV000805889 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Color RCV000160727 SCV000902634 likely benign Hereditary cancer-predisposing syndrome 2015-04-26 criteria provided, single submitter clinical testing

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