ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) (rs143635917)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562627 SCV000674385 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000539501 SCV000655120 likely benign Melanoma, cutaneous malignant, susceptibility to, 10 2018-01-03 criteria provided, single submitter clinical testing

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