ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.2445C>T (p.Pro815=)

gnomAD frequency: 0.00010  dbSNP: rs138116584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501621 SCV000593061 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV002056833 SCV002410534 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002056833 SCV002524731 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932806 SCV004753305 likely benign AFF4-related disorder 2022-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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