ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1317del (p.Arg440fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004799050 SCV005420494 likely pathogenic Café-au-lait macules with pulmonary stenosis 2024-10-04 criteria provided, single submitter research PVS1,PM2,PP1

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