ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.714G>A (p.Thr238=)

gnomAD frequency: 0.00003  dbSNP: rs773030906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877367 SCV001020096 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507540 SCV002802534 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 2022-03-10 criteria provided, single submitter clinical testing

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