ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3975-12A>T

dbSNP: rs750100751
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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 RCV002199618 SCV002356216 likely benign Neurofibromatosis, type 1 2024-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706290 SCV005212431 likely benign not provided criteria provided, single submitter not provided

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