ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.2007C>T (p.Pro669=)

gnomAD frequency: 0.11172  dbSNP: rs739863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522081 SCV001731550 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001685413 SCV001900749 benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522081 SCV002524733 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-12-05 criteria provided, single submitter clinical testing

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