ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.51+20G>T

gnomAD frequency: 0.00006  dbSNP: rs369679945
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 RCV002126407 SCV002455238 likely benign not provided 2022-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500261 SCV002806065 likely benign Branchiooculofacial syndrome 2021-10-30 criteria provided, single submitter clinical testing

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