ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.498C>T (p.Pro166=)

gnomAD frequency: 0.00041  dbSNP: rs146612442
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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 RCV002089997 SCV002328259 benign TP63-Related Spectrum Disorders 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494016 SCV002795626 likely benign ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8 2021-12-30 criteria provided, single submitter clinical testing

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