ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6513G>A (p.Lys2171=)

dbSNP: rs1597843784
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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 RCV001446241 SCV001649284 likely benign Neurofibromatosis, type 1 2018-11-20 criteria provided, single submitter clinical testing

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