ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) (rs116150891)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160408 SCV000212837 likely benign Hereditary cancer-predisposing syndrome 2017-09-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Subpopulation frequency in support of benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034481 SCV000043250 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000160408 SCV000910591 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000410751 SCV000488789 likely benign Melanoma-pancreatic cancer syndrome 2016-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000120540 SCV000210941 benign not specified 2016-10-17 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 RCV000120540 SCV000084693 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000161921 SCV000211902 benign Hereditary cutaneous melanoma 2018-01-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120540 SCV000805829 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120540 SCV000601031 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034481 SCV000888058 benign not provided 2017-08-16 criteria provided, single submitter clinical testing

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