ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.963+12dup

dbSNP: rs56817345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620532 SCV001846849 benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Invitae RCV002072931 SCV002321542 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002072931 SCV002524739 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002072931 SCV002794615 benign Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2021-10-05 criteria provided, single submitter clinical testing

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