ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.554A>T (p.Gln185Leu)

gnomAD frequency: 0.00297  dbSNP: rs137880283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877880 SCV001020688 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817044 SCV002069729 benign not specified 2018-02-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000877880 SCV002524743 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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