ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) (rs148076109)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000384210 SCV000340613 likely benign not specified 2016-04-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399267 SCV000442404 likely benign Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296599 SCV000442405 likely benign Ectrodactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351504 SCV000442406 likely benign TP63-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000384210 SCV000728822 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000870797 SCV001012340 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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