ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.*4G>A (rs141099051)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321729 SCV000437757 benign Neurofibromatosis, type 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000574887 SCV000674127 benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589011 SCV000696412 benign not provided 2016-05-13 criteria provided, single submitter clinical testing Variant summary: The NF2 c.*4G>A variant involves the alteration of a non-conserved nucleotide located in the 3'UTR. This variant was found in the large, broad control population, ExAC, with an allele frequency of 95/105096 (1/1106, 0.0009039), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic NF2 variant of 1/52910 (0.0000189), suggesting this variant is likely a benign polymorphism. Therefore, the variant of interest is classified as Benign.
GeneDx RCV000589011 SCV001778597 likely benign not provided 2020-03-02 criteria provided, single submitter clinical testing

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