ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7322-14C>T

gnomAD frequency: 0.00009  dbSNP: rs377244887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198743 SCV001369738 benign Neurofibromatosis, type 1 2018-10-04 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812244 SCV001473598 likely benign not provided 2019-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001198743 SCV002375580 benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001198743 SCV002561283 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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