ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1367C>T (p.Pro456Leu)

gnomAD frequency: 0.00009  dbSNP: rs201479097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122523 SCV002409924 benign TP63-Related Spectrum Disorders 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV002464516 SCV002759227 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as p.P417L
Fulgent Genetics, Fulgent Genetics RCV005025708 SCV005660633 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 2024-05-03 criteria provided, single submitter clinical testing

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