ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.1227-69dup

gnomAD frequency: 0.88635  dbSNP: rs34099243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548981 SCV001769008 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615295 SCV001836076 benign not provided 2021-05-29 criteria provided, single submitter clinical testing

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