ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1599C>T (p.Ser533=)

gnomAD frequency: 0.00018  dbSNP: rs758093495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479077 SCV001683369 likely benign TP63-Related Spectrum Disorders 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000946092 SCV002575440 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002505406 SCV002810711 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 2021-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925862 SCV004740902 likely benign TP63-related condition 2019-05-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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