ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1527+17G>A

gnomAD frequency: 0.00002  dbSNP: rs751609545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093279 SCV002376635 likely benign Neurofibromatosis, type 1 2024-12-11 criteria provided, single submitter clinical testing

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