ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.*1837_*1840dup

dbSNP: rs558203417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397002 SCV000416273 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437054 SCV004149131 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing GLI2: BS1

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