ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.-25C>T (rs144481587)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115330 SCV000212771 benign Hereditary cancer-predisposing syndrome 2014-06-19 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
Counsyl RCV000412304 SCV000488664 benign Melanoma-pancreatic cancer syndrome 2016-05-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000200981 SCV000860199 benign not specified 2018-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000200981 SCV000149239 likely benign not specified 2017-08-02 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.
Invitae RCV000204607 SCV000261928 benign Hereditary cutaneous melanoma 2016-03-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000200981 SCV000538653 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant identifed in melanoma patients and in vitro functional assay show mild impact on expression (Bisio_2010_20093296). Not related to our patient phenotype and and high allele frequency.
PreventionGenetics RCV000200981 SCV000805814 benign not specified 2017-03-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000200981 SCV000601021 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing

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