ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)

gnomAD frequency: 0.00001  dbSNP: rs1049732514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557509 SCV000628858 likely benign Neurofibromatosis, type 2 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765631 SCV000896956 uncertain significance Familial meningioma; Neurofibromatosis, type 2; SMARCB1-related schwannomatosis 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012778 SCV001173278 benign Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000557509 SCV002044910 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000557509 SCV004821922 likely benign Neurofibromatosis, type 2 2024-09-23 criteria provided, single submitter clinical testing

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