ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) (rs144439937)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114164 SCV000147715 benign not specified 2014-01-03 criteria provided, single submitter clinical testing
Invitae RCV001082503 SCV000218702 benign Joubert syndrome; Meckel-Gruber syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000114164 SCV000226239 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000114164 SCV000306424 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423044 SCV000510578 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000114164 SCV000512497 benign not specified 2017-07-25 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.
Illumina Clinical Services Laboratory,Illumina RCV001149500 SCV001310456 uncertain significance Joubert syndrome 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001149501 SCV001310457 uncertain significance Meckel syndrome type 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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