ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=)

gnomAD frequency: 0.00039  dbSNP: rs149126243
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 RCV002148731 SCV002464187 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500303 SCV002810847 likely benign Branchiooculofacial syndrome 2022-01-05 criteria provided, single submitter clinical testing

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