ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6126A>G (p.Leu2042=) (rs1060503911)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461818 SCV000554940 likely benign Neurofibromatosis, type 1 2017-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562143 SCV000663145 likely benign Hereditary cancer-predisposing syndrome 2016-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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