ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.2892A>G (p.Lys964=)

gnomAD frequency: 0.01004  dbSNP: rs34434281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877889 SCV001020698 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000877889 SCV002813703 likely benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2022-05-11 criteria provided, single submitter clinical testing

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