ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.1968T>C (p.Ser656=)

gnomAD frequency: 0.00001  dbSNP: rs192660791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974014 SCV001121817 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2023-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906074 SCV004723088 likely benign AFF4-related disorder 2021-10-21 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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