ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.761C>G (p.Thr254Ser)

dbSNP: rs786205679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000170516 SCV001554484 likely pathogenic Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome criteria provided, single submitter clinical testing
OMIM RCV000170516 SCV000222948 pathogenic Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2015-04-01 no assertion criteria provided literature only

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