ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.-34G>C (rs1800586)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236694 SCV000293103 likely benign not specified 2017-08-25 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.
Counsyl RCV000410324 SCV000489690 uncertain significance Melanoma-pancreatic cancer syndrome 2016-11-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000236694 SCV000601027 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020466 SCV001181951 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-05 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Color Health, Inc RCV001020466 SCV001349025 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter clinical testing This variant is located in 5' untranslated region of the CDKN2A (p16INK4A) gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 13/146754 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001454127 SCV001657839 likely benign Hereditary melanoma 2020-12-07 criteria provided, single submitter clinical testing

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