ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.942G>A (p.Arg314=)

dbSNP: rs786203445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166754 SCV000217566 likely benign Hereditary cancer-predisposing syndrome 2014-11-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000464346 SCV000554880 likely benign Neurofibromatosis, type 1 2024-04-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000464346 SCV002561457 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552927 SCV004790800 likely benign NF1-related disorder 2024-02-20 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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