ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6522T>A (p.Ala2174=)

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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 RCV003495445 SCV004245666 likely benign Neurofibromatosis, type 1 2023-11-12 criteria provided, single submitter clinical testing

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