ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.1530C>T (p.Gly510=)

gnomAD frequency: 0.00121  dbSNP: rs139523666
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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 RCV001818975 SCV002069355 likely benign not specified 2018-07-14 criteria provided, single submitter clinical testing
Invitae RCV002066288 SCV002394980 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002066288 SCV002524734 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 RCV003915789 SCV004733386 likely benign AFF4-related disorder 2024-01-08 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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