ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.2397-37T>C

gnomAD frequency: 0.21295  dbSNP: rs11739417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001654857 SCV001869277 benign not provided 2021-05-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253932 SCV002524732 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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