ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1480A>G (p.Thr494Ala)

gnomAD frequency: 0.00014  dbSNP: rs200203171
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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 RCV002132136 SCV002406132 benign TP63-Related Spectrum Disorders 2024-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025709 SCV005660635 uncertain significance 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; Premature ovarian failure 21 2024-05-17 criteria provided, single submitter clinical testing

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