ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6643-19A>G

gnomAD frequency: 0.00003  dbSNP: rs544476647
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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 RCV002185210 SCV002356127 likely benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738132 SCV004565154 likely benign not provided 2023-06-19 criteria provided, single submitter clinical testing

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