ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.612C>T (p.Phe204=) (rs774100153)

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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 RCV000163160 SCV000213677 likely benign Hereditary cancer-predisposing syndrome 2014-08-25 criteria provided, single submitter clinical testing
Color RCV000163160 SCV000537508 likely benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000477993 SCV000568916 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing This variant is denoted STK11 c.612C>T at the DNA level and is silent at the coding level, preserving a Phenylalanine at codon 204. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. STK11 c.612C>T was not observed at a significant frequency in large population cohorts (Lek 2016). The nucleotide which is altered, a cytosine (C) at base 612, is not conserved. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available evidence, it is unclear whether STK11 c.612C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000459971 SCV000554116 likely benign Peutz-Jeghers syndrome 2017-12-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000477993 SCV000889863 benign not provided 2017-11-27 criteria provided, single submitter clinical testing

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