ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7870-13dup

dbSNP: rs369360556
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679415 SCV000569626 likely benign not provided 2022-05-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660122 SCV000782112 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679415 SCV000806321 likely benign not provided 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660122 SCV002472615 benign Neurofibromatosis, type 1 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559124 SCV005048560 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2014-12-22 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.

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