ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.465C>T (p.Pro155=)

gnomAD frequency: 0.00011  dbSNP: rs374911526
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250011 SCV000316746 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000470856 SCV000563485 benign Neurofibromatosis, type 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000250011 SCV000716140 likely benign not specified 2017-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV001022862 SCV001184645 likely benign Hereditary cancer-predisposing syndrome 2018-03-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000470856 SCV002044923 benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000250011 SCV002067602 likely benign not specified 2020-12-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022862 SCV002528197 likely benign Hereditary cancer-predisposing syndrome 2021-07-29 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002292501 SCV002585921 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing NF2: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV000470856 SCV004357032 likely benign Neurofibromatosis, type 2 2022-11-06 criteria provided, single submitter clinical testing

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