ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3708+19C>T

gnomAD frequency: 0.00014  dbSNP: rs371590712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002576 SCV001160549 likely benign not specified 2019-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068798 SCV002363020 likely benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002068798 SCV002560686 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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