ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.246G>A (p.Leu82=)

gnomAD frequency: 0.00021  dbSNP: rs371270318
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469303 SCV000563482 benign Neurofibromatosis, type 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563920 SCV000674128 likely benign Hereditary cancer-predisposing syndrome 2017-04-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000469303 SCV001308954 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.
GeneDx RCV001534714 SCV001751656 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000469303 SCV002044920 benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563920 SCV002528190 benign Hereditary cancer-predisposing syndrome 2020-12-17 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001534714 SCV004154849 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing NF2: BP4
All of Us Research Program, National Institutes of Health RCV000469303 SCV004821907 benign Neurofibromatosis, type 2 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925394 SCV004742372 likely benign NF2-related disorder 2019-09-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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