ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.388dup (p.Glu130fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795920 SCV005418834 pathogenic Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting+PP4

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