ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3891A>G (p.Leu1297=) (rs753036396)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564321 SCV000663137 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000379101 SCV000401737 uncertain significance Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284530 SCV000401738 uncertain significance Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339512 SCV000401739 uncertain significance Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398138 SCV000401740 uncertain significance Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000339512 SCV000628554 likely benign Neurofibromatosis, type 1 2017-05-02 criteria provided, single submitter clinical testing

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