ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)

dbSNP: rs1757903817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329052 SCV001520352 likely pathogenic Branchiooculofacial syndrome 2019-02-07 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001329052 SCV005871186 likely pathogenic Branchiooculofacial syndrome 2024-01-01 criteria provided, single submitter clinical testing PVS1, PM2

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