ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5217A>G (p.Val1739=)

dbSNP: rs1228790204
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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 RCV001975490 SCV002255005 likely benign Neurofibromatosis, type 1 2024-05-15 criteria provided, single submitter clinical testing

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