ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) (rs3731249)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078114 SCV000109952 benign not specified 2012-11-29 criteria provided, single submitter clinical testing
Invitae RCV001080122 SCV000153875 benign Hereditary melanoma 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000078114 SCV000167653 benign not specified 2013-09-11 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.
Ambry Genetics RCV000157755 SCV000212739 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics,PreventionGenetics RCV000078114 SCV000301920 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000412408 SCV000488578 benign Melanoma-pancreatic cancer syndrome 2016-06-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV000157755 SCV000537365 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078114 SCV000888060 benign not specified 2020-04-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289671 SCV001477637 benign none provided 2020-04-17 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034482 SCV000043249 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000078114 SCV000084695 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000157755 SCV000787997 benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000078114 SCV001799059 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000078114 SCV001906135 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000034482 SCV001927581 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078114 SCV001958275 benign not specified no assertion criteria provided clinical testing

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