ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3104del (p.Met1035fs)

dbSNP: rs2151431751
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Total submissions: 2
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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 RCV004798907 SCV005420500 pathogenic Café-au-lait macules with pulmonary stenosis 2024-10-04 criteria provided, single submitter research PVS1,PS2,PM2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353283 SCV001548409 pathogenic Neurofibromatosis, type 1 2019-01-01 no assertion criteria provided clinical testing

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