ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4577+12C>T

gnomAD frequency: 0.00352  dbSNP: rs17878332
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217494 SCV000269454 benign not specified 2014-11-20 criteria provided, single submitter clinical testing c.4577+12C>T in intron 34 of NF1:This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has also been identified in 0.9% (41/440 6) of African American chromosomes by the NHLBI Exome sequencing project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs17878332).
PreventionGenetics, part of Exact Sciences RCV000217494 SCV000306269 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000679392 SCV000521671 likely benign not provided 2018-03-28 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.
Genetic Services Laboratory, University of Chicago RCV000217494 SCV002069030 benign not specified 2018-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054386 SCV002366551 benign Neurofibromatosis, type 1 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002054386 SCV002560750 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316185 SCV004016426 benign Neurofibromatosis, familial spinal 2023-07-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000217494 SCV004122298 benign not specified 2023-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558460 SCV005048836 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2015-02-24 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.
Breakthrough Genomics, Breakthrough Genomics RCV000679392 SCV005212432 likely benign not provided criteria provided, single submitter not provided

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