ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.162T>C (p.Val54=)

dbSNP: rs876660899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213511 SCV000278693 likely benign Hereditary cancer-predisposing syndrome 2015-09-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV002054997 SCV002330334 likely benign Neurofibromatosis, type 1 2021-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002054997 SCV002561765 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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