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: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951868 SCV001098314 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-16 criteria provided, single submitter clinical testing

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