ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1500C>T (p.Leu500=)

gnomAD frequency: 0.00002  dbSNP: rs758182356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574556 SCV000674153 likely benign Hereditary cancer-predisposing syndrome 2017-06-12 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.
Invitae RCV000632668 SCV000753854 likely benign Neurofibromatosis, type 2 2024-01-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000632668 SCV004818708 uncertain significance Neurofibromatosis, type 2 2023-11-02 criteria provided, single submitter clinical testing This variant is located in the NF2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with NF2-related disorders in the literature. This variant has been identified in 2/251496 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.

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