ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1146T>G (p.Ser382=)

dbSNP: rs2143879905
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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 RCV001396016 SCV001597736 likely benign Neurofibromatosis, type 1 2019-12-27 criteria provided, single submitter clinical testing

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