ClinVar Miner

Submissions for variant NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg)

gnomAD frequency: 0.00215  dbSNP: rs17884293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224430 SCV000281094 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000989807 SCV001140373 likely benign Neurofibromatosis, type 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989807 SCV002560773 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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