ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5813-5dup

dbSNP: rs775451791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681174 SCV000808632 likely benign not provided 2018-03-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002532192 SCV003316462 benign Neurofibromatosis, type 1 2025-02-03 criteria provided, single submitter clinical testing

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