ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.771G>A (p.Pro257=)

gnomAD frequency: 0.00010  dbSNP: rs759032771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632657 SCV000753843 likely benign Neurofibromatosis, type 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026752 SCV001189191 likely benign Hereditary cancer-predisposing syndrome 2018-11-07 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.
All of Us Research Program, National Institutes of Health RCV000632657 SCV004826753 likely benign Neurofibromatosis, type 2 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546539 SCV005041661 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing NF2: BP4, BP7

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