ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.402T>C (p.Tyr134=)

gnomAD frequency: 0.00003  dbSNP: rs201239102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064880 SCV002350526 likely benign TP63-Related Spectrum Disorders 2021-05-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478994 SCV002803298 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 ectodermal dysplasia syndrome; Split hand-foot malformation 4; Orofacial cleft 8 2021-09-23 criteria provided, single submitter clinical testing

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