ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3198-5_3198-4del

dbSNP: rs371047262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290954 SCV001479299 benign Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290954 SCV001725934 benign Neurofibromatosis, type 1 2016-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000204434 SCV001802965 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001290954 SCV002560644 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547492 SCV004734596 benign NF1-related disorder 2020-03-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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