ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.882+19A>T

gnomAD frequency: 0.00008  dbSNP: rs200703504
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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 RCV001974726 SCV002208341 likely benign TP63-Related Spectrum Disorders 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503666 SCV002807296 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 2022-04-22 criteria provided, single submitter clinical testing

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