ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.*2555dup

dbSNP: rs772929136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305719 SCV000442554 uncertain significance Cleft Lip +/- Cleft Palate, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360516 SCV000442555 uncertain significance TP63-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390956 SCV000442556 uncertain significance Ectrodactyly 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430876 SCV004149581 benign not provided 2022-09-01 criteria provided, single submitter clinical testing TP63: BS1, BS2

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