ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)

gnomAD frequency: 0.00003  dbSNP: rs761298686
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932896 SCV001078587 likely benign not provided 2018-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505386 SCV002810043 likely benign Branchiooculofacial syndrome 2022-04-15 criteria provided, single submitter clinical testing

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