ClinVar Miner

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

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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 RCV000157755 SCV000212739 benign Hereditary cancer-predisposing syndrome 2014-11-25 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.
Color RCV000157755 SCV000537365 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Counsyl RCV000412408 SCV000488578 benign Melanoma-pancreatic cancer syndrome 2016-06-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078114 SCV000109952 benign not specified 2012-11-29 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.
ITMI RCV000078114 SCV000084695 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000119155 SCV000153875 benign Hereditary cutaneous melanoma 2017-08-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078114 SCV000301920 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078114 SCV000601032 benign not specified 2016-04-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034482 SCV000888060 benign not provided 2016-04-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157755 SCV000787997 benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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