ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.602-5_606del

dbSNP: rs2113949539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV002259412 SCV002507296 pathogenic Chronic intestinal pseudoobstruction 2022-05-12 criteria provided, single submitter clinical testing

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