ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.540+7ACAA[7]

dbSNP: rs368226832
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261249 SCV000463890 uncertain significance Char syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261249 SCV000463892 uncertain significance Char syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000885601 SCV001029060 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000885601 SCV001741610 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000885601 SCV001799542 likely benign not provided no assertion criteria provided clinical testing

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