ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.2529A>G (p.Ser843=)

gnomAD frequency: 0.00009  dbSNP: rs201355729
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002219620 SCV002377341 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-07-13 criteria provided, single submitter clinical testing

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