ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.339C>T (p.Pro113=)

gnomAD frequency: 0.00034  dbSNP: rs143884299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951868 SCV001098314 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721687 SCV005330961 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing AFF4: BP4, BP7

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