ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.992+8G>A

gnomAD frequency: 0.00003  dbSNP: rs192488893
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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 RCV002066467 SCV002366167 likely benign TP63-Related Spectrum Disorders 2021-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505488 SCV002802872 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 2021-11-11 criteria provided, single submitter clinical testing

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