ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) (rs554325914)

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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 RCV000572211 SCV000674404 likely benign Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Invitae RCV000549220 SCV000655112 benign Melanoma, cutaneous malignant, susceptibility to, 10 2017-10-31 criteria provided, single submitter clinical testing

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