ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)

dbSNP: rs2067448681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290822 SCV001478986 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290822 SCV001692848 likely benign Neurofibromatosis, type 1 2025-01-06 criteria provided, single submitter clinical testing

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