ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.366G>A (p.Gln122=)

gnomAD frequency: 0.00003  dbSNP: rs201774402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000960693 SCV001988894 benign not provided 2021-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066373 SCV002406806 benign TP63-Related Spectrum Disorders 2021-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505442 SCV002795996 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 2021-07-20 criteria provided, single submitter clinical testing

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