ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1721+21dup

dbSNP: rs762735676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Liping Wei Laboratory, Peking University RCV000754672 SCV000804764 likely pathogenic Autism spectrum disorder 2018-08-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002060869 SCV002347563 benign Neurofibromatosis, type 1 2023-12-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256465 SCV002527414 likely benign Hereditary cancer-predisposing syndrome 2021-12-26 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV004808841 SCV005433870 uncertain significance not provided 2024-11-01 criteria provided, single submitter clinical testing

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