ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.819G>A (p.Glu273=)

gnomAD frequency: 0.00480  dbSNP: rs141383886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945420 SCV001091432 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818925 SCV002069728 benign not specified 2017-12-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000945420 SCV002524742 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432945 SCV004161388 benign not provided 2022-04-01 criteria provided, single submitter clinical testing AFF4: BS1, BS2

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