ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.150+37G>C (rs45456595)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120548 SCV000149241 likely benign not specified 2014-02-26 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 RCV000204895 SCV000262426 benign Hereditary cutaneous melanoma 2016-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000411071 SCV000488766 uncertain significance Melanoma-pancreatic cancer syndrome 2016-06-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120548 SCV000538654 uncertain significance 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: Reported in a family with melanoma, segregated in 2 individuals with atypical naevi and 1 with melanoma (Balogh 2012). MAF 0.3%.
PreventionGenetics,PreventionGenetics RCV000034475 SCV000805819 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Mendelics RCV000709071 SCV000838331 likely benign Cutaneous malignant melanoma 2 2018-07-02 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034475 SCV000043254 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000120548 SCV000084702 not provided not specified 2013-09-19 no assertion provided reference population

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