ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3974G>T (p.Arg1325Met)

dbSNP: rs863224447
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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 RCV000624674 SCV000742556 likely pathogenic Inborn genetic diseases 2017-08-08 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796254 SCV005416312 likely pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM5+PP2+PP4

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