ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8469G>A (p.Lys2823=)

dbSNP: rs1203883572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478935 SCV001683215 likely benign Neurofibromatosis, type 1 2021-07-17 criteria provided, single submitter clinical testing
GeneDx RCV001751771 SCV002007185 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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