ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.3321C>T (p.Thr1107=)

gnomAD frequency: 0.00006  dbSNP: rs745754457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002180928 SCV002479435 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916353 SCV004735051 likely benign AFF4-related disorder 2023-08-04 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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