ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.51+8C>T

gnomAD frequency: 0.00108  dbSNP: rs199883139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000921536 SCV001066941 benign not provided 2023-06-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970486 SCV004782576 likely benign TFAP2A-related disorder 2022-05-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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