ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.192-9_192-8del

dbSNP: rs794727498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177177 SCV000229010 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514456 SCV000609558 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080338 SCV001014425 benign TP63-Related Spectrum Disorders 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000514456 SCV001912950 benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503681 SCV002805358 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 2022-04-30 criteria provided, single submitter clinical testing

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