ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7551T>C (p.Leu2517=) (rs1555536374)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538213 SCV000628791 uncertain significance Neurofibromatosis, type 1 2017-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566099 SCV000670319 likely benign Hereditary cancer-predisposing syndrome 2016-07-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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