ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4332+8A>G

dbSNP: rs773883353
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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 RCV000232409 SCV000284456 likely benign Neurofibromatosis, type 1 2024-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547597 SCV004761541 likely benign NF1-related disorder 2023-04-25 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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