ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) (rs201208890)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000116169 SCV000217044 benign Hereditary cancer-predisposing syndrome 2015-11-04 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 RCV000116169 SCV000684514 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Counsyl RCV000411859 SCV000488970 benign Melanoma-pancreatic cancer syndrome 2016-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000120544 SCV000150078 likely benign not specified 2018-01-11 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.
ITMI RCV000120544 SCV000084698 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000161922 SCV000211903 benign Hereditary cutaneous melanoma 2017-01-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120544 SCV000601020 likely benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759746 SCV000889276 benign not provided 2018-06-08 criteria provided, single submitter clinical testing

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