ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.810G>A (p.Leu270=)

gnomAD frequency: 0.00920  dbSNP: rs114858484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878691 SCV001021638 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-18 criteria provided, single submitter clinical testing

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