ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1109-4C>T (rs1407794756)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572712 SCV000676284 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Color RCV000572712 SCV000912998 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589586 SCV000696701 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing Variant summary: The STK11 c.1109-4C>T variant involves the alteration of a non-conserved intronic nucleotide. 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 is absent in 88156 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000542293 SCV000629060 likely benign Peutz-Jeghers syndrome 2017-02-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589586 SCV000806069 likely benign not provided 2017-09-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589586 SCV000888635 likely benign not provided 2017-10-03 criteria provided, single submitter clinical testing

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