ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) (rs6413463)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115336 SCV000216974 benign Hereditary cancer-predisposing syndrome 2014-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000115336 SCV000910615 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000411383 SCV000489539 uncertain significance Melanoma-pancreatic cancer syndrome 2016-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000254655 SCV000149245 likely benign not specified 2017-10-26 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.
Integrated Genetics/Laboratory Corporation of America RCV000588888 SCV000695344 uncertain significance not provided 2016-12-09 criteria provided, single submitter clinical testing
Invitae RCV000168263 SCV000218934 likely benign Hereditary cutaneous melanoma 2018-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000709065 SCV000838325 likely benign Cutaneous malignant melanoma 2 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000588888 SCV000805826 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254655 SCV000601029 uncertain significance not specified 2016-11-19 criteria provided, single submitter clinical testing

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