ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.777C>T (p.Asn259=)

dbSNP: rs786201105
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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 RCV000162671 SCV000213118 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000205472 SCV000261777 likely benign Peutz-Jeghers syndrome 2023-06-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679323 SCV000806085 likely benign not provided 2017-11-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492663 SCV004239730 likely benign Breast and/or ovarian cancer 2022-11-04 criteria provided, single submitter clinical testing

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