ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.539-19C>T

gnomAD frequency: 0.00004  dbSNP: rs375564449
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002123838 SCV002447745 likely benign not provided 2022-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500214 SCV002803767 likely benign Branchiooculofacial syndrome 2021-09-23 criteria provided, single submitter clinical testing

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