ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003333711 SCV004041582 pathogenic Branchiooculofacial syndrome 2023-10-06 criteria provided, single submitter clinical testing

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