ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.-2G>A (rs191394143)

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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 RCV000129674 SCV000184473 benign Hereditary cancer-predisposing syndrome 2017-10-10 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other data supporting benign classification
GeneDx RCV000212397 SCV000210939 benign not specified 2014-03-24 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.
Counsyl RCV000410804 SCV000488952 benign Melanoma-pancreatic cancer syndrome 2016-07-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212397 SCV000601023 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129674 SCV000684502 benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590031 SCV000695339 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212397 SCV000805815 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590031 SCV000888052 benign not provided 2018-03-07 criteria provided, single submitter clinical testing
Invitae RCV001512796 SCV001720260 benign Hereditary melanoma 2020-10-27 criteria provided, single submitter clinical testing

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