ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2127C>T (p.Phe709=) (rs199943748)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213544 SCV000274053 likely benign Hereditary cancer-predisposing syndrome 2014-12-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000588071 SCV000225529 uncertain significance not provided 2015-02-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588071 SCV000697330 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The PMS2 c.2127C>T (p.Phe709Phe) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 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 5/72434 control chromosomes at a frequency of 0.000069, which does not exceed the estimated maximal expected allele frequency of a pathogenic PMS2 variant (0.0001136). In addition, multiple clinical diagnostic laboratories classified this variant as uncertain significance or likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000231762 SCV000285106 likely benign Lynch syndrome 2016-02-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000588071 SCV000806198 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing

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