ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1944A>G (p.Glu648=) (rs1465016257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573720 SCV000670558 likely benign Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000632573 SCV000753758 likely benign Neurofibromatosis, type 1 2017-11-06 criteria provided, single submitter clinical testing

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