ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.15C>T (p.Asp5=) (rs786201498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163753 SCV000214330 likely benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Color RCV000163753 SCV000691488 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590092 SCV000696713 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing Variant summary: The STK11 c.15C>T (p.Asp5Asp) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alteration to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. However, a clinical diagnostic laboratory does cite the variant as "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000538130 SCV000629094 likely benign Peutz-Jeghers syndrome 2017-05-19 criteria provided, single submitter clinical testing

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