ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.751A>G (p.Met251Val) (rs148397357)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568291 SCV000674392 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other strong data supporting benign classification
GeneDx RCV000604028 SCV000726726 likely benign not specified 2018-01-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000544194 SCV000655206 benign Melanoma, cutaneous malignant, susceptibility to, 10 2017-12-01 criteria provided, single submitter clinical testing

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