ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) (rs6413464)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129667 SCV000184465 benign Hereditary cancer-predisposing syndrome 2014-12-26 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034480 SCV000043251 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000129667 SCV000684527 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000411295 SCV000488686 benign Melanoma-pancreatic cancer syndrome 2016-07-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120541 SCV000859973 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000120541 SCV000167652 benign not specified 2013-08-13 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 RCV000120541 SCV000084694 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000205035 SCV000262039 benign Hereditary cutaneous melanoma 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120541 SCV000805828 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120541 SCV000601030 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034480 SCV000888056 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129667 SCV000787995 benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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