ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.486C>T (p.Asp162=)

dbSNP: rs1269329328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547648 SCV000629118 likely benign Peutz-Jeghers syndrome 2025-02-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777278 SCV000912980 likely benign Hereditary cancer-predisposing syndrome 2018-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777278 SCV001185007 likely benign Hereditary cancer-predisposing syndrome 2018-07-16 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.
Fulgent Genetics, Fulgent Genetics RCV002490970 SCV002796174 likely benign Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis 2021-11-29 criteria provided, single submitter clinical testing

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