ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5148T>C (p.Ala1716=)

dbSNP: rs2151538691
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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 RCV001402701 SCV001604552 likely benign Neurofibromatosis, type 1 2020-10-16 criteria provided, single submitter clinical testing

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