ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=)

gnomAD frequency: 0.00008  dbSNP: rs201494266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928809 SCV001074425 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000928809 SCV001784115 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489234 SCV002803332 likely benign Branchiooculofacial syndrome 2021-10-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000928809 SCV005222768 likely benign not provided criteria provided, single submitter not provided

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