ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=)

gnomAD frequency: 0.00674  dbSNP: rs35008125
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713828 SCV000844465 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713828 SCV001031716 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000713828 SCV001855954 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493268 SCV002794637 likely benign Branchiooculofacial syndrome 2021-10-06 criteria provided, single submitter clinical testing

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